chr12:25398284:C>A Detail (hg19) (KRAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:25,398,284-25,398,284 |
hg38 | chr12:25,245,350-25,245,350 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004985.4:c.35G>T | NP_004976.2:p.Gly12Val |
NM_033360.3:c.35G>T | NP_203524.1:p.Gly12Val | |
Ensemble | ENST00000688940.1:c.35G>T | ENST00000688940.1:p.Gly12Val |
Summary
MGeND
Clinical significance |
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Variant entry | 775 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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duodenum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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pyloric antrum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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appendix |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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anal canal |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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intrahepatic bile duct carcinoma |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of pancreas |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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tail of pancreas |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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2019/03/14 | colon, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2019/03/14 | other |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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Non-small cell lung cancer |
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MGS000026
(TMGS000046) |
Manabu Muto | Kyoto University | ||||
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Colorectal |
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MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
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Adenocarcinoma of lung (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Primary malignant neoplasm of pancreatic duct |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Carcinoma of pancreas (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Adenocarcinoma of rectum (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Adenocarcinoma of sigmoid colon (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Pancreas |
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MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
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Primary malignant neoplasm of ovary (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Carcinoma of cecum (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Primary adenocarcinoma of colon (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Carcinoma of colon (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Ovarian serous tumour |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Neuroendocrine carcinoma (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Endometrial carcinoma (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Adenocarcinoma of pancreas |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Primary malignant neoplasm of pancreatic duct |
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MGS000022
(TMGS000081) |
Manabu Muto | Kyoto University | ||||
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Carcinoma of pancreas (disorder)_Acinar cell carcinoma (morphologic abnormality) |
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MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
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Adenocarcinoma of cervix (disorder) |
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MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
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Adenocarcinoma of cervix (disorder) |
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MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
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Primary adenocarcinoma of colon (disorder) |
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MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
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Carcinoma of colon (disorder) |
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MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
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Liver |
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MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
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Adenocarcinoma of lung (disorder) |
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MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
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pancreatic cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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Endometrial cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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Non-small cell lung cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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Ovarian cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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Bladder cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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Others (Mast cell tumor) |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
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fundus of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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pyloric antrum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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duodenum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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jejunum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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small intestine, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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appendix |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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anal canal |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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intrahepatic bile duct carcinoma |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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tail of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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neuroblastoma |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
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Langerhans cell histiocytosis (LCH) |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
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acute lymphoblastic leukaemia (ALL) |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
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other |
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MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
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carcinoma of pancreas |
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MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
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duodenum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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jejunum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ileum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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appendix |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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intrahepatic bile duct carcinoma |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ampulla of vater |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of pancreas |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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tail of pancreas |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2012-06-10 | no assertion criteria provided | Carcinoma of pancreas |
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Detail |
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2012-10-25 | no assertion criteria provided |
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Detail | |
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2018-02-15 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
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Detail |
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2018-02-15 | criteria provided, single submitter | Non-small cell lung carcinoma |
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Detail |
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2022-12-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2014-10-02 | no assertion criteria provided | Thyroid tumor |
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Detail |
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2014-10-02 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2014-10-02 | no assertion criteria provided | acute myeloid leukemia |
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Detail |
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2018-03-06 | no assertion criteria provided | Cerebral arteriovenous malformation |
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Detail |
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2022-10-10 | no assertion criteria provided | chronic myelogenous leukemia, BCR-ABL1 positive |
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Detail |
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no assertion criteria provided | lung sarcomatoid carcinoma |
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Detail | |
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2023-09-22 | criteria provided, single submitter | linear nevus sebaceous syndrome |
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Detail |
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2023-10-13 | criteria provided, single submitter | RASopathy |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
lung non-small cell carcinoma | Selumetinib,Docetaxel | B |
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Sensitivity/Response | Somatic | 1 | 26125448 | Detail |
colorectal cancer | Cetuximab | D |
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Resistance | Somatic | 4 | 20978259 | Detail |
cancer | Crizotinib | C |
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Resistance | Somatic | 2 | 25232318 | Detail |
colorectal cancer | Selumetinib,Dactolisib | D |
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Sensitivity/Response | Somatic | 3 | 22392911 | Detail |
colorectal cancer | Panitumumab | C |
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Resistance | Somatic | 18316791 | Detail | |
lung cancer | Gefitinib | C |
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Resistance | Somatic | 2 | 17409929 | Detail |
colorectal cancer | Regorafenib | D |
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Resistance | Somatic | 26161928 | Detail | |
colorectal cancer | Cetuximab,Panitumumab | C |
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Resistance | Somatic | 2 | 19223544 | Detail |
lung non-small cell carcinoma | Palbociclib | D |
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Sensitivity/Response | Somatic | 1 | 20609353 | Detail |
lung non-small cell carcinoma | B |
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Poor Outcome | Somatic | 3 | 26372703 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Carcinoma of lung | Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transi... | BeFree | 21994468 | Detail |
<0.001 | Xenograft Model | Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papilloma... | BeFree | 24858378 | Detail |
0.003 | Immunologic Deficiency Syndromes | Here we present the first formal evidence of the shared and independent ability ... | BeFree | 26633636 | Detail |
0.113 | Malignant neoplasm of lung | This case suggests possible eradication of the G12D KRAS lung cancer clones by c... | BeFree | 23917487 | Detail |
0.256 | Stomach Neoplasms | NA | CLINVAR | Detail | |
<0.001 | Lipomatosis, Multiple | We conclude that KENS, the intraneural Schwann cell proliferation and the lipoma... | BeFree | 25928347 | Detail |
0.003 | cholangiocarcinoma | Whereas the introduction of defined factors of iPC cells once induced an immatur... | BeFree | 20381452 | Detail |
0.001 | Secondary malignant neoplasm of lymph node | In sst2+/- mice, PI3K was activated and signaled via AKT (PKB; protein kinase B)... | BeFree | 25683115 | Detail |
<0.001 | rhabdomyosarcoma | By contrast, mylz2:KRAS(G12D) tumors more closely resembled mature skeletal musc... | BeFree | 23821038 | Detail |
<0.001 | Rhabdomyosarcoma, Embryonal | A KRAS(G12D)-induced zebrafish embryonal rhabdomyosarcoma was then used to asses... | BeFree | 23615277 | Detail |
<0.001 | rhabdomyosarcoma | We performed an overexpression screen of chromatin-modifying factors in a KRAS(G... | BeFree | 23705022 | Detail |
0.321 | Non-small cell lung carcinoma | Using genetically engineered mouse models (GEMMs) for human non-small-cell lung ... | BeFree | 23959381 | Detail |
<0.001 | Malignant neoplasm of lung | Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transi... | BeFree | 21994468 | Detail |
<0.001 | Brain Neoplasms | When expressed under the control of the krt5 gene promoter, KRAS(G12V) induced b... | BeFree | 25644510 | Detail |
0.228 | pancreatic carcinoma | NA | CLINVAR | Detail | |
0.256 | Stomach Neoplasms | One case had a KRAS G12V (c.35G>T) mutation in both the primary gastric tumor... | BeFree | 25427437 | Detail |
0.004 | Secondary malignant neoplasm of lymph node | In sst2+/- mice, PI3K was activated and signaled via AKT (PKB; protein kinase B)... | BeFree | 25683115 | Detail |
<0.001 | Non-small cell lung cancer stage III | We present a patient with stage III NSCLC containing a KRAS G12D activating muta... | BeFree | 23917487 | Detail |
<0.001 | Brain Neoplasms | In contrast, when expressed under the control of the gfap gene promoter, KRAS(G1... | BeFree | 25644510 | Detail |
<0.001 | Lung Neoplasms | However, a more rigorous test of the requirement for Notch signaling in lung onc... | BeFree | 21994468 | Detail |
<0.001 | lipoma | We conclude that KENS, the intraneural Schwann cell proliferation and the lipoma... | BeFree | 25928347 | Detail |
0.160 | adenoma | Using genetically engineered mouse models (GEMMs) for human non-small-cell lung ... | BeFree | 23959381 | Detail |
0.309 | adenocarcinoma | Using genetically engineered mouse models (GEMMs) for human non-small-cell lung ... | BeFree | 23959381 | Detail |
<0.001 | Carcinoma, Spindle-Cell | Combining p53(R273H) with KRAS(G12V) activation caused transformation of MOE int... | BeFree | 25810107 | Detail |
0.221 | Lung Neoplasms | Autophagy is required for mitochondrial function, lipid metabolism, growth, and ... | BeFree | 23959381 | Detail |
<0.001 | rhabdomyosarcoma | Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, poly... | BeFree | 20805368 | Detail |
0.113 | Malignant neoplasm of lung | Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transi... | BeFree | 21994468 | Detail |
0.001 | Intraepithelial Neoplasia | Production of microRNAs miR-21, miR-205, and miR-200 paralleled PanIN progressio... | BeFree | 20093556 | Detail |
<0.001 | adenocarcinoma | Using genetically engineered mouse models (GEMMs) for human non-small-cell lung ... | BeFree | 23959381 | Detail |
<0.001 | adenoid cystic carcinoma | KRAS mutation analysis was performed by direct genomic sequencing and revealed a... | BeFree | 19362042 | Detail |
0.127 | cholangiocarcinoma | Whereas the introduction of defined factors of iPC cells once induced an immatur... | BeFree | 20381452 | Detail |
0.004 | Tumor Progression | The transformed phenotype of IOE(CMYC) cells was further enhanced in concert wit... | BeFree | 21859834 | Detail |
0.229 | Carcinoma of lung | Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transi... | BeFree | 21994468 | Detail |
0.309 | adenocarcinoma | Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papilloma... | BeFree | 24858378 | Detail |
0.149 | Carcinogenesis | We demonstrated that transient transgenic expression of KRAS(G12V) in putative n... | BeFree | 25644510 | Detail |
<0.001 | carcinosarcoma | A total of 3 different somatic mutations were identified: one KRAS (codon G12D) ... | BeFree | 20122944 | Detail |
0.018 | adenocarcinoma | Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papilloma... | BeFree | 24858378 | Detail |
<0.001 | Adenocarcinoma of ampulla of Vater | The KRAS(G12D) mutation identifies a subset of AA patients with poor prognoses a... | BeFree | 25616942 | Detail |
<0.001 | Verrucous epidermal nevus | We identified a mosaic c.35G > A (p.Gly12Asp) KRAS mutation in the pigmented ... | BeFree | 25928347 | Detail |
<0.001 | adenoid cystic carcinoma | KRAS mutation analysis was performed by direct genomic sequencing and revealed a... | BeFree | 19362042 | Detail |
0.011 | pancreatic ductal adenocarcinoma | In addition, expression of sst2 was progressively lost, involving increased PI3K... | BeFree | 25683115 | Detail |
<0.001 | adenoid cystic carcinoma | KRAS mutation analysis was performed by direct genomic sequencing and revealed a... | BeFree | 19362042 | Detail |
<0.001 | Secondary malignant neoplasm of lymph node | In sst2+/- mice, PI3K was activated and signaled via AKT (PKB; protein kinase B)... | BeFree | 25683115 | Detail |
0.229 | Carcinoma of lung | This case suggests possible eradication of the G12D KRAS lung cancer clones by c... | BeFree | 23917487 | Detail |
0.002 | Rash and Dermatitis Adverse Event Associated with Chemoradiation | This case suggests possible eradication of the G12D KRAS lung cancer clones by c... | BeFree | 23917487 | Detail |
0.221 | Lung Neoplasms | However, a more rigorous test of the requirement for Notch signaling in lung onc... | BeFree | 21994468 | Detail |
0.120 | NEVUS, EPIDERMAL (disorder) | NA | CLINVAR | Detail | |
0.256 | ovarian neoplasm | NA | CLINVAR | Detail | |
0.011 | pancreatic ductal adenocarcinoma | miR-21 production was regulated by KRAS(G12D) and epidermal growth factor recept... | BeFree | 20093556 | Detail |
0.003 | pancreatic ductal adenocarcinoma | In addition, expression of sst2 was progressively lost, involving increased PI3K... | BeFree | 25683115 | Detail |
0.082 | colorectal carcinoma | Recent evidence associates the codon 12 valine-for-glycine (G12V) mutant Ki-Ras ... | BeFree | 10398103 | Detail |
0.003 | pancreatic ductal adenocarcinoma | In addition, expression of sst2 was progressively lost, involving increased PI3K... | BeFree | 25683115 | Detail |
<0.001 | adenoid cystic carcinoma | KRAS mutation analysis was performed by direct genomic sequencing and revealed a... | BeFree | 19362042 | Detail |
0.120 | NEVUS, EPIDERMAL (disorder) | Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, poly... | BeFree | 20805368 | Detail |
0.004 | Tumor Progression | To determine which KRAS effectors were responsible for tumor progression, we cre... | BeFree | 24489653 | Detail |
<0.001 | Linear Verrucous Epidermal Nevus | We identified a mosaic c.35G > A (p.Gly12Asp) KRAS mutation in the pigmented ... | BeFree | 25928347 | Detail |
<0.001 | adenoid cystic carcinoma | KRAS mutation analysis was performed by direct genomic sequencing and revealed a... | BeFree | 19362042 | Detail |
<0.001 | Ovarian Failure, Premature | This review summarizes studies providing evidence (1) that endogenous RAS activa... | BeFree | 22197887 | Detail |
<0.001 | premature menopause | This review summarizes studies providing evidence (1) that endogenous RAS activa... | BeFree | 22197887 | Detail |
0.005 | pancreatic ductal adenocarcinoma | miR-21 production was regulated by KRAS(G12D) and epidermal growth factor recept... | BeFree | 20093556 | Detail |
<0.001 | Hurthle Cell Tumor | Using genetically engineered mouse models (GEMMs) for human non-small-cell lung ... | BeFree | 23959381 | Detail |
0.002 | Brain Neoplasms | In contrast, when expressed under the control of the gfap gene promoter, KRAS(G1... | BeFree | 25644510 | Detail |
<0.001 | adenoid cystic carcinoma | KRAS mutation analysis was performed by direct genomic sequencing and revealed a... | BeFree | 19362042 | Detail |
0.003 | pancreatic ductal adenocarcinoma | In addition, expression of sst2 was progressively lost, involving increased PI3K... | BeFree | 25683115 | Detail |
0.003 | pancreatic ductal adenocarcinoma | In addition, expression of sst2 was progressively lost, involving increased PI3K... | BeFree | 25683115 | Detail |
<0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
<0.001 | thymic carcinoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
<0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
<0.001 | Thymoma, type C | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
0.149 | Carcinogenesis | This system allowed us to rapidly compare the ability of 12 different KRAS mutat... | BeFree | 25065594 | Detail |
0.003 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
0.082 | colorectal carcinoma | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral on... | BeFree | 25359494 | Detail |
0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
0.160 | colorectal cancer | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral on... | BeFree | 25359494 | Detail |
0.240 | RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER | NA | CLINVAR | Detail | |
0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
0.163 | Neoplasm Metastasis | Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D,... | BeFree | 19679400 | Detail |
0.003 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail | |
0.448 | juvenile myelomonocytic leukemia | NA | CLINVAR | Detail | |
0.006 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
0.018 | Malignant tumor of colon | BRAF(V600E) efficient transformation and induction of microsatellite instability... | BeFree | 19881948 | Detail |
0.135 | colon carcinoma | BRAF(V600E) efficient transformation and induction of microsatellite instability... | BeFree | 19881948 | Detail |
0.025 | Malignant tumor of colon | BRAF(V600E) efficient transformation and induction of microsatellite instability... | BeFree | 19881948 | Detail |
0.024 | colon carcinoma | BRAF(V600E) efficient transformation and induction of microsatellite instability... | BeFree | 19881948 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
83 patients from a phase II trial (docetaxel + placebo or selumetinib) with KRAS mutant tumors were ... | CIViC Evidence | Detail |
Cells harboring KRAS G12V mutation were insensitive to cetuximab treatment in isogenic SW48 cells an... | CIViC Evidence | Detail |
Case report of a 59-year-old white female patient (60 pack-years) with a CUP-syndrome. Molecular pro... | CIViC Evidence | Detail |
In 28 out of 40 (70%) metastatic colorectal cancer tumors harboring KRAS, NRAS, BRAF, or PIK3CA muta... | CIViC Evidence | Detail |
In a retrospective study of 427 metastatic colorectal patients, KRAS mutations were observed in 43% ... | CIViC Evidence | Detail |
In recurrent lung cancer patients treated with the epidermal growth factor receptor tyrosine kinase ... | CIViC Evidence | Detail |
In an in vitro study, a SW48 cell line expressing KRAS G12V mutation demonstrated decreased sensiti... | CIViC Evidence | Detail |
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... | CIViC Evidence | Detail |
In vivo studies confirmed the activity of PD0332991 (CDK4 inhibitor) on KRAS G12V mutant tumors. 17%... | CIViC Evidence | Detail |
Retrospective analysis of data from 841 patients who underwent surgery and molecular testing for NSC... | CIViC Evidence | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Carcinoma of pancreas | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Nevus sebaceous | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND not provided | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Thyroid tumor | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Neoplasm of ovary | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Acute myeloid leukemia | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Cerebral arteriovenous malformation | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Chronic myelogenous leukemia, BCR-ABL1 positive | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Lung sarcomatoid carcinoma | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Linear nevus sebaceous syndrome | ClinVar | Detail |
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND RASopathy | ClinVar | Detail |
Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transient upregulation of ... | DisGeNET | Detail |
Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papillomavirus 16 (HPV16) E6/... | DisGeNET | Detail |
Here we present the first formal evidence of the shared and independent ability of basal cells and l... | DisGeNET | Detail |
This case suggests possible eradication of the G12D KRAS lung cancer clones by concurrent chemoradia... | DisGeNET | Detail |
NA | DisGeNET | Detail |
We conclude that KENS, the intraneural Schwann cell proliferation and the lipoma in this individual ... | DisGeNET | Detail |
Whereas the introduction of defined factors of iPC cells once induced an immature state and sensitiz... | DisGeNET | Detail |
In sst2+/- mice, PI3K was activated and signaled via AKT (PKB; protein kinase B); when these mice we... | DisGeNET | Detail |
By contrast, mylz2:KRAS(G12D) tumors more closely resembled mature skeletal muscle and were most sim... | DisGeNET | Detail |
A KRAS(G12D)-induced zebrafish embryonal rhabdomyosarcoma was then used to assess the therapeutic ef... | DisGeNET | Detail |
We performed an overexpression screen of chromatin-modifying factors in a KRAS(G12D)-driven zebrafis... | DisGeNET | Detail |
Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we f... | DisGeNET | Detail |
Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transient upregulation of ... | DisGeNET | Detail |
When expressed under the control of the krt5 gene promoter, KRAS(G12V) induced brain tumors in ventr... | DisGeNET | Detail |
NA | DisGeNET | Detail |
One case had a KRAS G12V (c.35G>T) mutation in both the primary gastric tumor and a post-imatinib... | DisGeNET | Detail |
In sst2+/- mice, PI3K was activated and signaled via AKT (PKB; protein kinase B); when these mice we... | DisGeNET | Detail |
We present a patient with stage III NSCLC containing a KRAS G12D activating mutation who had a parti... | DisGeNET | Detail |
In contrast, when expressed under the control of the gfap gene promoter, KRAS(G12V) induced brain tu... | DisGeNET | Detail |
However, a more rigorous test of the requirement for Notch signaling in lung oncogenesis, crossing t... | DisGeNET | Detail |
We conclude that KENS, the intraneural Schwann cell proliferation and the lipoma in this individual ... | DisGeNET | Detail |
Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we f... | DisGeNET | Detail |
Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we f... | DisGeNET | Detail |
Combining p53(R273H) with KRAS(G12V) activation caused transformation of MOE into high-grade sarcoma... | DisGeNET | Detail |
Autophagy is required for mitochondrial function, lipid metabolism, growth, and fate of KRAS(G12D)-d... | DisGeNET | Detail |
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and r... | DisGeNET | Detail |
Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transient upregulation of ... | DisGeNET | Detail |
Production of microRNAs miR-21, miR-205, and miR-200 paralleled PanIN progression in the KRAS(G12D) ... | DisGeNET | Detail |
Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we f... | DisGeNET | Detail |
KRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98... | DisGeNET | Detail |
Whereas the introduction of defined factors of iPC cells once induced an immature state and sensitiz... | DisGeNET | Detail |
The transformed phenotype of IOE(CMYC) cells was further enhanced in concert with KRAS(G12V)/BRAF(V6... | DisGeNET | Detail |
Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transient upregulation of ... | DisGeNET | Detail |
Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papillomavirus 16 (HPV16) E6/... | DisGeNET | Detail |
We demonstrated that transient transgenic expression of KRAS(G12V) in putative neural stem and/or pr... | DisGeNET | Detail |
A total of 3 different somatic mutations were identified: one KRAS (codon G12D) in a carcinosarcoma ... | DisGeNET | Detail |
Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papillomavirus 16 (HPV16) E6/... | DisGeNET | Detail |
The KRAS(G12D) mutation identifies a subset of AA patients with poor prognoses and may be used to id... | DisGeNET | Detail |
We identified a mosaic c.35G > A (p.Gly12Asp) KRAS mutation in the pigmented verrucous epidermal ... | DisGeNET | Detail |
KRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98... | DisGeNET | Detail |
In addition, expression of sst2 was progressively lost, involving increased PI3K activity, in mouse ... | DisGeNET | Detail |
KRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98... | DisGeNET | Detail |
In sst2+/- mice, PI3K was activated and signaled via AKT (PKB; protein kinase B); when these mice we... | DisGeNET | Detail |
This case suggests possible eradication of the G12D KRAS lung cancer clones by concurrent chemoradia... | DisGeNET | Detail |
This case suggests possible eradication of the G12D KRAS lung cancer clones by concurrent chemoradia... | DisGeNET | Detail |
However, a more rigorous test of the requirement for Notch signaling in lung oncogenesis, crossing t... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
miR-21 production was regulated by KRAS(G12D) and epidermal growth factor receptor in PDAC-derived c... | DisGeNET | Detail |
In addition, expression of sst2 was progressively lost, involving increased PI3K activity, in mouse ... | DisGeNET | Detail |
Recent evidence associates the codon 12 valine-for-glycine (G12V) mutant Ki-Ras protein with higher ... | DisGeNET | Detail |
In addition, expression of sst2 was progressively lost, involving increased PI3K activity, in mouse ... | DisGeNET | Detail |
KRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98... | DisGeNET | Detail |
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and r... | DisGeNET | Detail |
To determine which KRAS effectors were responsible for tumor progression, we created four effector d... | DisGeNET | Detail |
We identified a mosaic c.35G > A (p.Gly12Asp) KRAS mutation in the pigmented verrucous epidermal ... | DisGeNET | Detail |
KRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98... | DisGeNET | Detail |
This review summarizes studies providing evidence (1) that endogenous RAS activation regulates impor... | DisGeNET | Detail |
This review summarizes studies providing evidence (1) that endogenous RAS activation regulates impor... | DisGeNET | Detail |
miR-21 production was regulated by KRAS(G12D) and epidermal growth factor receptor in PDAC-derived c... | DisGeNET | Detail |
Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we f... | DisGeNET | Detail |
In contrast, when expressed under the control of the gfap gene promoter, KRAS(G12V) induced brain tu... | DisGeNET | Detail |
KRAS mutation analysis was performed by direct genomic sequencing and revealed a KRAS wildtype in 98... | DisGeNET | Detail |
In addition, expression of sst2 was progressively lost, involving increased PI3K activity, in mouse ... | DisGeNET | Detail |
In addition, expression of sst2 was progressively lost, involving increased PI3K activity, in mouse ... | DisGeNET | Detail |
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... | DisGeNET | Detail |
The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with ... | DisGeNET | Detail |
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D, pG12V, and p.G13D) ... | DisGeNET | Detail |
The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
BRAF(V600E) efficient transformation and induction of microsatellite instability versus KRAS(G12V) i... | DisGeNET | Detail |
BRAF(V600E) efficient transformation and induction of microsatellite instability versus KRAS(G12V) i... | DisGeNET | Detail |
BRAF(V600E) efficient transformation and induction of microsatellite instability versus KRAS(G12V) i... | DisGeNET | Detail |
BRAF(V600E) efficient transformation and induction of microsatellite instability versus KRAS(G12V) i... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121913529 dbSNP
- Genome
- hg19
- Position
- chr12:25,398,284-25,398,284
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- G12V
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/425
- Summary (CIViC Variant)
- KRAS mutations are the most common mutations in pancreatic cancer occurring in > 90% of cases. Of these the G12D activating mutation is the most prevalent and results in a loss of GTPase activity which in turn leads to a constitutively active form of KRAS. This is enough to cause pre-cancerous pancreatic intraepithelial lesions
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