chr12:25245350:C>T Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,284-25,398,284 View the variant detail on this assembly version.
hg38 chr12:25,245,350-25,245,350

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.35G>A NP_004976.2:p.Gly12Asp
NM_033360.3:c.35G>A NP_203524.1:p.Gly12Asp
Ensemble ENST00000692768.1:c.-88+5401G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 25
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 190070 OMIM
HGNC 6407 HGNC
Ensembl ENSG00000133703 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1135366 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/04/26 Rectal cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2017/11/30 borderline malignancy mucinous tumors somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2017/12/14 Rectal cancer (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2017/12/14 Endometrioid adenocarcinoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/01/11 neuroendocrine carcinoma (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/01/11 Rectal cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/04/12 colon cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/04/12 colon cancer (dissemination) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/04/12 colon cancer (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/03/22 colon cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/03/22 colon cancer (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/04/12 pancreatic cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
Pathogenic salivary gland neoplasms somatic MGS000044
(TMGS000097) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-02-07 no assertion criteria provided Carcinoma of pancreas somatic Detail
Pathogenic 2012-06-10 no assertion criteria provided epidermal nevus somatic Detail
Pathogenic 2012-10-25 no assertion criteria provided somatic Detail
Pathogenic 2022-03-22 criteria provided, multiple submitters, no conflicts linear nevus sebaceous syndrome germline somatic Detail
Pathogenic 2014-08-28 no assertion criteria provided juvenile myelomonocytic leukemia somatic Detail
Pathogenic 2012-06-10 no assertion criteria provided autoimmune lymphoproliferative syndrome type 4 somatic Detail
Pathogenic 2016-03-10 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2022-12-22 criteria provided, multiple submitters, no conflicts not provided germline unknown somatic Detail
Likely pathogenic 2016-03-10 no assertion criteria provided lung carcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic Likely pathogenic 2018-03-30 no assertion criteria provided acute myeloid leukemia somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Thyroid tumor somatic Detail
Pathogenic 2022-10-05 criteria provided, multiple submitters, no conflicts RASopathy germline Detail
Pathogenic 2023-11-03 criteria provided, single submitter Cerebral arteriovenous malformation somatic Detail
Likely pathogenic 2015-02-19 no assertion criteria provided Vascular Tumors Including Pyogenic Granuloma somatic Detail
Pathogenic 2019-11-04 no assertion criteria provided Primary low grade serous adenocarcinoma of ovary somatic Detail
Pathogenic 2021-05-01 no assertion criteria provided Capillary malformation-arteriovenous malformation 1 somatic Detail
not provided no assertion provided Encephalocraniocutaneous lipomatosis somatic Detail
Pathogenic 2012-06-10 no assertion criteria provided Gastric cancer somatic Detail
association no assertion criteria provided Endometrial hyperplasia without atypia,Atypical endometrial hyperplasia somatic Detail
association no assertion criteria provided Endometrial hyperplasia without atypia,Atypical endometrial hyperplasia somatic Detail
Likely pathogenic 2022-08-22 criteria provided, single submitter germline Detail
Pathogenic 2022-07-19 criteria provided, single submitter Congenital Pulmonary Airway Malformations de novo Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer B Prognostic Supports Positive Somatic 3 22948721 Detail
pancreatic cancer B Prognostic Supports Poor Outcome Somatic 4 27010960 Detail
malignant exocrine pancreas neoplasm B Prognostic Supports Poor Outcome Somatic 3 23565280 Detail
hairy cell leukemia Vemurafenib C Predictive Supports Resistance Somatic 2 26352686 Detail
pancreatic ductal carcinoma B Prognostic Supports Poor Outcome Somatic 3 27010960 Detail
colorectal cancer Therapeutic Tumor Infiltrating Lymphocytes C Predictive Supports Sensitivity/Response Somatic 3 27959684 Detail
colorectal cancer Selumetinib,Dactolisib D Predictive Supports Sensitivity/Response Somatic 3 22392911 Detail
colorectal cancer Panitumumab C Predictive Supports Resistance Somatic 18316791 Detail
lung cancer Gefitinib B Predictive Supports Resistance Somatic 2 17409929 Detail
multiple myeloma Melphalan B Predictive Supports Resistance Somatic 2 19284554 Detail
multiple myeloma Melphalan D Predictive Supports Resistance Somatic 2 11050000 Detail
multiple myeloma Melphalan D Predictive Supports Resistance Somatic 12483530 Detail
multiple myeloma Melphalan D Predictive Supports Resistance Somatic 2 16497971 Detail
lung cancer B Diagnostic Supports Positive Somatic 3 23014527 Detail
lung non-small cell carcinoma Dactolisib,Selumetinib D Predictive Supports Sensitivity/Response Somatic 4 19029981 Detail
colorectal cancer Regorafenib D Predictive Supports Resistance Somatic 26161928 Detail
melanoma Vemurafenib D Predictive Supports Resistance Somatic 2 24265155 Detail
ovarian cancer Cetuximab D Predictive Supports Resistance Somatic 22246397 Detail
colorectal cancer Cetuximab,Panitumumab C Predictive Supports Resistance Somatic 2 19223544 Detail
pancreatic carcinoma Akt Inhibitor MK2206 C Predictive Supports Sensitivity/Response Somatic 2 22025163 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&gt;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 &gt; 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 &gt; 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

DescrptionSourceLinks
In 119 metastatic colorectal cancer patients treated with cetuximab-based first-line chemotherapy, K... CIViC Evidence Detail
In 219 patients with metastatic pancreatic ductal adenocarcinoma, a multivariate analysis identified... CIViC Evidence Detail
In 171 patients with tumors of the exocrine pancreas, a KRAS G12D mutation (N=60) was associated wit... CIViC Evidence Detail
One patient enrolled in a clinical study to evaluate vemurafenib treatment of BRAF V600E mutant hair... CIViC Evidence Detail
Exon-2 KRAS mutation status was analyzed in 219 patients with pancreatic ductal carcinoma, excluding... CIViC Evidence Detail
A patient with metastatic colorectal cancer was enrolled in a phase 2 clinical trial (NCT01174121). ... CIViC Evidence Detail
In 28 out of 40 (70%) metastatic colorectal cancer tumors harboring KRAS, NRAS, BRAF or PIK3CA mutat... 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 a study of patients receiving melphalan-based therapy, those with KRAS codon 12 mutations were le... CIViC Evidence Detail
In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less s... CIViC Evidence Detail
In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less s... CIViC Evidence Detail
In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less s... CIViC Evidence Detail
KRAS G12D mutation occurs in never smokers significantly more often than in smokers. CIViC Evidence Detail
The use of NVP-BEZ235 in conjunction with ARRY-142886, but not as monotherapy, in a lung cancer mode... CIViC Evidence Detail
In an in vitro study, a SW48 cell line expressing KRAS G12D mutation demonstrated decreased sensitiv... CIViC Evidence Detail
In vitro studies of M229 (a human melanoma cell line) endogenously expressing wildtype KRAS and BRAF... CIViC Evidence Detail
In an in vitro study, a MCAS cell line expressing KRAS G12D mutation was associated with reduced sen... CIViC Evidence Detail
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... CIViC Evidence Detail
Among 33 patients treated with pan-AKT inhibitor MK-2206 in this phase 1 study, one patient with pan... CIViC Evidence Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Carcinoma of pancreas ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Epidermal nevus ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Nevus sebaceous ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Linear nevus sebaceous syndrome ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Autoimmune lymphoproliferative syndrome type 4 ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Non-small cell lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Neoplasm of ovary ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Neoplasm of the large intestine ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Acute myeloid leukemia ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Thyroid tumor ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND RASopathy ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Cerebral arteriovenous malformation ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Vascular Tumors Including Pyogenic Granuloma ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Primary low grade serous adenocarcinoma of ovary ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Capillary malformation-arteriovenous malformation 1 ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Encephalocraniocutaneous lipomatosis ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Gastric cancer ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND multiple conditions ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Cardiovascular phenotype ClinVar Detail
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Congenital Pulmonary Airway Malformations 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&gt;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 &gt; 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 &gt; 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
hg38
Position
chr12:25,245,350-25,245,350
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
7960
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
101204
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.976206474052409E-5
Variant (CIViC) (CIViC Variant)
G12D
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/79
Summary (CIViC Variant)
While the KRAS G12 region is a widely studied recurrent region in cancer, its impact on clinical action is still actively debated. Often associated with tumors that are wild-type for other drivers (EGFR and ALK specifically), the prognosis for patients with this mutation seems to be worse than the KRAS wild-type cohort in patients with colorectal and pancreatic cancer, however this hypothesis is in need of further validation. This mutation, along with the mutations affecting the neighboring G13 position, may result in a less responsive tumor when treated with first-generation TKI's like gefitinib. The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS. However, cetuximab treatment was shown to extend survival in a single cohort of colorectal patients with G12D mutations. Overall, the interpretation for KRAS mutations in most clinical scenarios is still undecided.
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