chr3:178952085:A>T Detail (hg19) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,952,085-178,952,085 |
| hg38 | chr3:179,234,297-179,234,297 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.3140A>T | NP_006209.2:p.His1047Leu |
| Ensemble | ENST00000263967.4:c.3140A>T | ENST00000263967.4:p.His1047Leu |
| ENST00000643187.1:c.*220A>T |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 47 |
| 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
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
body of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
pyloric antrum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
caecum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
pyloric antrum |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
sigmoid colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
Pathogenic
|
Others |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
Pathogenic
|
Carcinoma of colon (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Breast cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
other |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
breast cancer |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
lung cancer |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
stomach cancer |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
upper third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
middle third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
pyloric antrum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
caecum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
appendix |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
intrahepatic bile duct carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2012-06-24 | no assertion criteria provided | breast adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2012-06-24 | no assertion criteria provided | CLOVES syndrome |
somatic
unknown
|
Detail |
|
Pathogenic
|
2014-11-25 | no assertion criteria provided | PIK3CA related overgrowth syndrome |
somatic
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | medulloblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Pathogenic
|
2017-01-01 | criteria provided, single submitter | Stroke disorder |
unknown
|
Detail |
|
Pathogenic
|
2012-06-24 | no assertion criteria provided | CLAPO syndrome |
somatic
|
Detail |
|
Pathogenic
|
2019-05-28 | criteria provided, single submitter | Cowden syndrome 1 |
unknown
|
Detail |
|
Pathogenic
|
2018-11-07 | criteria provided, single submitter | Megalencephaly-capillary malformation-polymicrogyria syndrome |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Hemihypertrophy |
somatic
|
Detail | |
|
Pathogenic
|
2012-06-24 | no assertion criteria provided | CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC |
somatic
|
Detail |
|
Pathogenic
|
2020-04-02 | criteria provided, single submitter | colorectal cancer |
somatic
|
Detail |
|
Pathogenic
|
2021-04-27 | criteria provided, single submitter | not provided |
somatic
|
Detail |
|
Likely pathogenic
|
2024-03-19 | no assertion criteria provided | Cavernous lymphangioma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.129 | ovarian neoplasm | NA | CLINVAR | Detail | |
| 0.361 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi | NA | CLINVAR | Detail | |
| <0.001 | Mixed Salivary Gland Tumor | The only case of SDC with anaplastic transformation showed PIK3CA p.H1047R mutat... | BeFree | 23851329 | Detail |
| 0.377 | liver carcinoma | NA | CLINVAR | Detail | |
| 0.304 | Malignant neoplasm of breast | In this study, we report the development of a knock-in mouse model for breast ca... | BeFree | 22370636 | Detail |
| <0.001 | lipomatosis | Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesente... | BeFree | 24903541 | Detail |
| 0.065 | breast carcinoma | Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation a... | BeFree | 23633485 | Detail |
| 0.009 | Mammary Neoplasms | All mutations were mutually exclusive, apart from one basal-like breast tumour w... | BeFree | 24318467 | Detail |
| 0.018 | breast carcinoma | Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation a... | BeFree | 23633485 | Detail |
| 0.065 | breast carcinoma | Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that ... | BeFree | 22315990 | Detail |
| <0.001 | Progressive Neoplastic Disease | Whole exome sequencing performed in tumor tissue obtained at the time of progres... | BeFree | 23470635 | Detail |
| 0.049 | Carcinogenesis | Using in situ genetic lineage tracing and limiting dilution transplantation, we ... | BeFree | 26266975 | Detail |
| 0.171 | Mammary Neoplasms | Our results suggest that the PIK3CA H1047R oncogene targets a multipotent progen... | BeFree | 21482677 | Detail |
| 0.049 | Carcinogenesis | Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that ... | BeFree | 22315990 | Detail |
| <0.001 | Anaplasia | Here we show that expression of PIK3CA(H1047R) in lineage-committed basal Lgr5-p... | BeFree | 26266975 | Detail |
| 0.171 | Mammary Neoplasms | We found that activation of the latent Pik3ca(H1047R) allele resulted in breast ... | BeFree | 22370636 | Detail |
| 0.065 | breast carcinoma | To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a... | BeFree | 21822287 | Detail |
| 0.304 | Malignant neoplasm of breast | Using in situ genetic lineage tracing and limiting dilution transplantation, we ... | BeFree | 26266975 | Detail |
| 0.065 | breast carcinoma | In this study, we report the development of a knock-in mouse model for breast ca... | BeFree | 22370636 | Detail |
| <0.001 | Progressive Neoplastic Disease | Whole exome sequencing performed in tumor tissue obtained at the time of progres... | BeFree | 23470635 | Detail |
| 0.171 | Mammary Neoplasms | All mutations were mutually exclusive, apart from one basal-like breast tumour w... | BeFree | 24318467 | Detail |
| 0.304 | Malignant neoplasm of breast | To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a... | BeFree | 21822287 | Detail |
| 0.030 | Neoplasm Metastasis | In addition, the oncogenic PIK3CA(H1047R) mutation was detected in a subpopulati... | BeFree | 23948972 | Detail |
| <0.001 | Mammary Tumorigenesis | Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mamm... | BeFree | 22370636 | Detail |
| 0.304 | Malignant neoplasm of breast | Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that ... | BeFree | 22315990 | Detail |
| 0.065 | breast carcinoma | Using in situ genetic lineage tracing and limiting dilution transplantation, we ... | BeFree | 26266975 | Detail |
| 0.377 | liver carcinoma | Moreover, by analyzing primary HCC tissue samples we were able to demonstrate th... | BeFree | 23167739 | Detail |
| <0.001 | Progressive cGVHD | Whole exome sequencing performed in tumor tissue obtained at the time of progres... | BeFree | 23470635 | Detail |
| <0.001 | Benign symmetrical lipomatosis | Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesente... | BeFree | 24903541 | Detail |
| 0.018 | Malignant neoplasm of breast | Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation a... | BeFree | 23633485 | Detail |
| <0.001 | Progressive cGVHD | Whole exome sequencing performed in tumor tissue obtained at the time of progres... | BeFree | 23470635 | Detail |
| 0.120 | breast adenocarcinoma | NA | CLINVAR | Detail | |
| 0.137 | Non-small cell lung carcinoma | NA | CLINVAR | Detail | |
| 0.080 | breast carcinoma | This study proposed to investigate the relationship of PIK3CA somatic mutations,... | BeFree | 25027743 | Detail |
| 0.080 | breast carcinoma | This study proposed to investigate the relationship of PIK3CA somatic mutations,... | BeFree | 25027743 | Detail |
| 0.001 | cholangiocarcinoma | PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), ... | BeFree | 18181165 | Detail |
| 0.131 | colon carcinoma | NA | CLINVAR | Detail | |
| 0.240 | Malignant neoplasm of breast | This study proposed to investigate the relationship of PIK3CA somatic mutations,... | BeFree | 25027743 | Detail |
| 0.364 | seborrheic keratosis | NA | CLINVAR | Detail | |
| 0.246 | Stomach Neoplasms | NA | CLINVAR | Detail | |
| 0.036 | breast carcinoma | This study proposed to investigate the relationship of PIK3CA somatic mutations,... | BeFree | 25027743 | Detail |
| 0.051 | Malignant neoplasm of breast | This study proposed to investigate the relationship of PIK3CA somatic mutations,... | BeFree | 25027743 | Detail |
| 0.104 | Malignant neoplasm of breast | This study proposed to investigate the relationship of PIK3CA somatic mutations,... | BeFree | 25027743 | Detail |
| 0.377 | liver carcinoma | PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), ... | BeFree | 18181165 | Detail |
| 0.128 | Epithelial ovarian cancer | NA | CLINVAR | Detail | |
| <0.001 | Pancreatic intraepithelial neoplasia | Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mou... | BeFree | 22628411 | Detail |
| <0.001 | Pancreatic intraepithelial neoplasia | Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mou... | BeFree | 22628411 | Detail |
| 0.272 | melanoma | Although BRAF(V600E)/PIK3CA(H1047R) melanomas were sensitive to the antiprolifer... | BeFree | 25472943 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Breast adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND CLOVES syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND PIK3CA related overgrowth syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Medulloblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Neoplasm of ovary | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Brainstem glioma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Neoplasm of brain | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND CLAPO syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Cowden syndrome 1 | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Megalencephaly-capillary malformation-polymicrogyri... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Hemihypertrophy | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Colorectal cancer | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Cavernous lymphangioma | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The only case of SDC with anaplastic transformation showed PIK3CA p.H1047R mutation, whereas 1 of 2 ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study, we report the development of a knock-in mouse model for breast cancer where the endog... | DisGeNET | Detail |
| Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. | DisGeNET | Detail |
| Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation and PI3K signaling in... | DisGeNET | Detail |
| All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutat... | DisGeNET | Detail |
| Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation and PI3K signaling in... | DisGeNET | Detail |
| Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1... | DisGeNET | Detail |
| Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonst... | DisGeNET | Detail |
| Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the ... | DisGeNET | Detail |
| Our results suggest that the PIK3CA H1047R oncogene targets a multipotent progenitor cell and, furth... | DisGeNET | Detail |
| Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1... | DisGeNET | Detail |
| Here we show that expression of PIK3CA(H1047R) in lineage-committed basal Lgr5-positive and luminal ... | DisGeNET | Detail |
| We found that activation of the latent Pik3ca(H1047R) allele resulted in breast tumors with multiple... | DisGeNET | Detail |
| To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of brea... | DisGeNET | Detail |
| Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the ... | DisGeNET | Detail |
| In this study, we report the development of a knock-in mouse model for breast cancer where the endog... | DisGeNET | Detail |
| Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonst... | DisGeNET | Detail |
| All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutat... | DisGeNET | Detail |
| To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of brea... | DisGeNET | Detail |
| In addition, the oncogenic PIK3CA(H1047R) mutation was detected in a subpopulation of PV1, but this ... | DisGeNET | Detail |
| Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis an... | DisGeNET | Detail |
| Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1... | DisGeNET | Detail |
| Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the ... | DisGeNET | Detail |
| Moreover, by analyzing primary HCC tissue samples we were able to demonstrate that a hotspot mutatio... | DisGeNET | Detail |
| Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonst... | DisGeNET | Detail |
| Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. | DisGeNET | Detail |
| Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation and PI3K signaling in... | DisGeNET | Detail |
| Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonst... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... | DisGeNET | Detail |
| This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... | DisGeNET | Detail |
| PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladde... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... | DisGeNET | Detail |
| This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... | DisGeNET | Detail |
| This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... | DisGeNET | Detail |
| PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladde... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mouse pancreas leads to... | DisGeNET | Detail |
| Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mouse pancreas leads to... | DisGeNET | Detail |
| Although BRAF(V600E)/PIK3CA(H1047R) melanomas were sensitive to the antiproliferative effects of sel... | 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
- rs121913279 dbSNP
- Genome
- hg19
- Position
- chr3:178,952,085-178,952,085
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8588
- 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)
- 120230
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.31739166597355E-6
- Variant (CIViC) (CIViC Variant)
- H1047L
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1151
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