chr14:105246551:C>T Detail (hg19) (AKT1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:105,246,551-105,246,551 |
hg38 | chr14:104,780,214-104,780,214 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001014432.1:c.49G>A | NP_001014432.1:p.Glu17Lys |
NM_005163.2:c.49G>A | NP_005154.2:p.Glu17Lys | |
NM_001014431.1:c.49G>A | NP_001014431.1:p.Glu17Lys |
Summary
MGeND
Clinical significance |
![]() ![]() ![]() |
Variant entry | 66 |
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 |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
lower third of oesophagus |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
fundus of stomach |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
body of stomach |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
stomach, unspecified |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
ascending colon |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
transverse colon |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
descending colon |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
sigmoid colon |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
colon, unspecified |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectum |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
ill-defined sites within the digestive system |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
Adenocarcinoma of lung (disorder) |
![]() |
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
![]() |
breast |
![]() |
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
![]() |
Carcinoma of breast (disorder)_Hormone receptor positive malignant neoplasm of breast |
![]() |
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
![]() |
Carcinoma of bladder (disorder) |
![]() |
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
![]() |
Endometrioid carcinoma ovary (disorder) |
![]() |
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
![]() |
Hepatocellular carcinoma |
![]() |
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
![]() |
Penile cancer |
![]() |
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
![]() |
Trachea (Adenoid cystic carcinoma) |
![]() |
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
![]() |
colorectal cancer |
![]() |
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
![]() |
body of stomach |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
caecum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
ascending colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
transverse colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
sigmoid colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
colon, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
ill-defined sites within the digestive system |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
bronchus or lung, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
fundus of stomach |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
body of stomach |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
transverse colon |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
descending colon |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
colon, unspecified |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectosigmoid junction |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectum |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
extrahepatic bile duct |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
bronchus or lung, unspecified |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2011-08-18 | no assertion criteria provided | breast adenocarcinoma |
![]() |
Detail |
![]() |
2011-08-18 | no assertion criteria provided | Carcinoma of colon |
![]() |
Detail |
![]() |
2011-08-18 | no assertion criteria provided | Neoplasm of ovary |
![]() |
Detail |
![]() |
2023-10-31 | criteria provided, single submitter | Proteus syndrome |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Thyroid tumor |
![]() |
Detail |
![]() |
2015-07-14 | no assertion criteria provided | bone osteosarcoma |
![]() |
Detail |
![]() |
2015-07-14 | no assertion criteria provided | Small cell lung carcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Breast neoplasm |
![]() |
Detail |
![]() |
2015-07-14 | no assertion criteria provided | Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
![]() |
Detail |
![]() |
2015-07-14 | no assertion criteria provided | Tumor of meninges |
![]() |
Detail |
![]() |
2015-07-14 | no assertion criteria provided | Non-small cell lung carcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided |
![]() |
Detail | |
![]() |
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
![]() |
Detail |
![]() |
2015-07-14 | no assertion criteria provided | Prostate neoplasm |
![]() |
Detail |
![]() |
2022-01-02 | criteria provided, single submitter | Cowden syndrome 6 |
![]() |
Detail |
![]() |
2022-01-06 | criteria provided, single submitter | not provided |
![]() |
Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
breast cancer | Akt Inhibitor MK2206 | D |
![]() |
![]() |
Sensitivity/Response | Somatic | 3 | 23888070 | Detail |
cancer | Capivasertib | B |
![]() |
![]() |
Sensitivity/Response | Somatic | 4 | 28489509 | Detail |
melanoma | Vemurafenib | D |
![]() |
![]() |
Resistance | Somatic | 24265155 | Detail | |
melanoma | Uprosertib | D |
![]() |
![]() |
Sensitivity/Response | Somatic | 2 | 24735930 | Detail |
breast cancer | Capivasertib | C |
![]() |
![]() |
Sensitivity/Response | Somatic | 3 | 26351323 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.001 | acute leukemia | Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and a... | BeFree | 18392055 | Detail |
0.012 | Malignant neoplasm of ovary | An earlier study discovered an oncogenic AKT1 gene mutation (AKT1 E17K) in breas... | BeFree | 18392055 | Detail |
0.031 | Carcinogenesis | To show the involvement of AKT1(E17K) directly in v-Abl-mediated tumorigenesis, ... | BeFree | 20440266 | Detail |
0.012 | Malignant neoplasm of ovary | They described a novel point mutation (E17K) in the pleckstrin homology domain (... | BeFree | 17921701 | Detail |
0.011 | leukemia | The E17K change results in constitutive AKT1 activation, induces leukaemia in mi... | BeFree | 19461960 | Detail |
0.009 | Carcinoma of lung | Our data provide evidence that, although AKT1 mutations are apparently rare in l... | BeFree | 18256540 | Detail |
0.150 | Malignant neoplasm of breast | A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. | UNIPROT | 17611497 | Detail |
0.013 | ovarian carcinoma | They described a novel point mutation (E17K) in the pleckstrin homology domain (... | BeFree | 17921701 | Detail |
0.005 | leukemia | The E17K change results in constitutive AKT1 activation, induces leukaemia in mi... | BeFree | 19461960 | Detail |
0.013 | ovarian carcinoma | Recently, a somatic mutation in AKT1 (E17K) has been detected in breast, colorec... | BeFree | 18504432 | Detail |
0.012 | Malignant neoplasm of ovary | An oncogenic mutation (G49A:E17K) in the AKT1 gene has been described recently i... | BeFree | 20101210 | Detail |
0.150 | Malignant neoplasm of breast | This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at ... | BeFree | 18392055 | Detail |
0.013 | ovarian carcinoma | Here we report the identification of a somatic mutation in human breast, colorec... | BeFree | 17611497 | Detail |
0.009 | endometrial carcinoma | AKT1 pleckstrin homology domain E17K activating mutation in endometrial carcinom... | BeFree | 19853286 | Detail |
0.005 | Malignant neoplasm of pancreas | AKT1 (E17K) mutation in pancreatic cancer. | BeFree | 18783292 | Detail |
<0.001 | Precursor B-cell lymphoblastic leukemia | Oncogenic E17K mutation in the pleckstrin homology domain of AKT1 promotes v-Abl... | BeFree | 20440266 | Detail |
0.361 | Proteus syndrome | NA | CLINVAR | Detail | |
0.171 | Mammary Neoplasms | Available paired tissue samples from breast tumors known to harbor mutations und... | BeFree | 21617917 | Detail |
0.005 | pancreatic carcinoma | AKT1 (E17K) mutation in pancreatic cancer. | BeFree | 18783292 | Detail |
<0.001 | endometrial carcinoma | AKT1 pleckstrin homology domain E17K activating mutation in endometrial carcinom... | BeFree | 19853286 | Detail |
0.361 | Proteus syndrome | Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Ly... | BeFree | 23992099 | Detail |
0.019 | Malignant neoplasm of lung | The AKT1 (E17K) mutation has been reported in some tumour types (breast, colorec... | BeFree | 19491896 | Detail |
<0.001 | Squamous cell carcinoma of lung | Activating E17K mutation in the gene encoding the protein kinase AKT1 in a subse... | BeFree | 18256540 | Detail |
0.246 | ovarian neoplasm | NA | CLINVAR | Detail | |
0.030 | breast carcinoma | AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. | BeFree | 23888070 | Detail |
0.005 | leukemia | The E17K change results in constitutive AKT1 activation, induces leukaemia in mi... | BeFree | 19461960 | Detail |
0.012 | Malignant neoplasm of ovary | Here we report the identification of a somatic mutation in human breast, colorec... | BeFree | 17611497 | Detail |
0.006 | leukemia | The E17K change results in constitutive AKT1 activation, induces leukaemia in mi... | BeFree | 19461960 | Detail |
<0.001 | Malignant neoplasm of ovary | They described a novel point mutation (E17K) in the pleckstrin homology domain (... | BeFree | 17921701 | Detail |
0.175 | Mammary Neoplasms | Available paired tissue samples from breast tumors known to harbor mutations und... | BeFree | 21617917 | Detail |
0.008 | leukemia | The E17K change results in constitutive AKT1 activation, induces leukaemia in mi... | BeFree | 19461960 | Detail |
0.012 | Malignant neoplasm of ovary | Recently, a somatic mutation in AKT1 (E17K) has been detected in breast, colorec... | BeFree | 18504432 | Detail |
0.006 | uterine corpus cancer | We analysed the presence of the AKT1 (E17K) mutation in 89 endometrial cancer ti... | BeFree | 19491896 | Detail |
0.031 | Carcinogenesis | Moreover, SUMOylation loss dramatically reduced Akt1 E17K-mediated cell prolifer... | BeFree | 23884910 | Detail |
0.007 | Malignant neoplasm of urinary bladder | AKT1 mutations in bladder cancer: identification of a novel oncogenic mutation t... | BeFree | 19802009 | Detail |
0.361 | Proteus syndrome | A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. | UNIPROT | 17611497 | Detail |
0.006 | Malignant neoplasm of endometrium | We analysed the presence of the AKT1 (E17K) mutation in 89 endometrial cancer ti... | BeFree | 19491896 | Detail |
0.125 | colon carcinoma | NA | CLINVAR | Detail | |
0.005 | Carcinoma of bladder | AKT1 mutations in bladder cancer: identification of a novel oncogenic mutation t... | BeFree | 19802009 | Detail |
0.016 | prostate carcinoma | E17K substitution in AKT1 in prostate cancer. | BeFree | 20407443 | Detail |
0.018 | Malignant neoplasm of prostate | E17K substitution in AKT1 in prostate cancer. | BeFree | 20407443 | Detail |
0.120 | breast adenocarcinoma | NA | CLINVAR | Detail | |
0.013 | ovarian carcinoma | An oncogenic mutation (G49A:E17K) in the AKT1 gene has been described recently i... | BeFree | 20101210 | Detail |
0.011 | leukemia | The transforming mutation E17K/AKT1 is not a major event in B-cell-derived lymph... | BeFree | 18665177 | Detail |
0.014 | liver carcinoma | This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at ... | BeFree | 18392055 | Detail |
0.012 | colorectal cancer | Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast,... | BeFree | 18813315 | Detail |
0.150 | Malignant neoplasm of breast | AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. | BeFree | 23888070 | Detail |
0.011 | leukemia | They described a novel point mutation (E17K) in the pleckstrin homology domain (... | BeFree | 17921701 | Detail |
<0.001 | ovarian carcinoma | They described a novel point mutation (E17K) in the pleckstrin homology domain (... | BeFree | 17921701 | Detail |
0.019 | Malignant neoplasm of lung | Our data provide evidence that, although AKT1 mutations are apparently rare in l... | BeFree | 18256540 | Detail |
0.013 | ovarian carcinoma | An earlier study discovered an oncogenic AKT1 gene mutation (AKT1 E17K) in breas... | BeFree | 18392055 | Detail |
0.011 | leukemia | Recently, the E17K mutation in the AKT1 has been associated with multiple human ... | BeFree | 20440266 | Detail |
0.011 | leukemia | The E17K change results in constitutive AKT1 activation and induces leukaemia in... | BeFree | 18504432 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Breast cancer cell lines with the AKT1 E17K mutation did not show sensitivity to AKT inhibitor MK-22... | CIViC Evidence | Detail |
AKT1 E17K mutations are oncogenic and occur in many cancers at a low prevalence. We performed a mult... | CIViC Evidence | Detail |
In an in vitro study, a M229 cell line endogenously expressing BRAF V600E mutation (a known vemurafe... | CIViC Evidence | Detail |
A cell line with AKT E17K mutation was found to be sensitive to AKT inhibition with GSK2141795B in ... | CIViC Evidence | Detail |
In a phase-I study of AZD5363, partial response was observed in 2 patients with breast and ovarian c... | CIViC Evidence | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Breast adenocarcinoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Carcinoma of colon | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Neoplasm of ovary | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Proteus syndrome | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Thyroid tumor | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Bone osteosarcoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Small cell lung carcinoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Malignant melanoma of skin | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Breast neoplasm | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Endometrial Endometrioid Adenocarcinoma, Variant with ... | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Lung adenocarcinoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Tumor of meninges | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Neoplasm of uterine cervix | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Prostate neoplasm | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Cowden syndrome 6 | ClinVar | Detail |
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND not provided | ClinVar | Detail |
Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias. | DisGeNET | Detail |
An earlier study discovered an oncogenic AKT1 gene mutation (AKT1 E17K) in breast, colorectal and ov... | DisGeNET | Detail |
To show the involvement of AKT1(E17K) directly in v-Abl-mediated tumorigenesis, we infected bone mar... | DisGeNET | Detail |
They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gen... | DisGeNET | Detail |
The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly,... | DisGeNET | Detail |
Our data provide evidence that, although AKT1 mutations are apparently rare in lung cancer (1.9%), t... | DisGeNET | Detail |
A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. | DisGeNET | Detail |
They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gen... | DisGeNET | Detail |
The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly,... | DisGeNET | Detail |
Recently, a somatic mutation in AKT1 (E17K) has been detected in breast, colorectal, lung and ovaria... | DisGeNET | Detail |
An oncogenic mutation (G49A:E17K) in the AKT1 gene has been described recently in human breast, colo... | DisGeNET | Detail |
This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and... | DisGeNET | Detail |
Here we report the identification of a somatic mutation in human breast, colorectal and ovarian canc... | DisGeNET | Detail |
AKT1 pleckstrin homology domain E17K activating mutation in endometrial carcinoma. | DisGeNET | Detail |
AKT1 (E17K) mutation in pancreatic cancer. | DisGeNET | Detail |
Oncogenic E17K mutation in the pleckstrin homology domain of AKT1 promotes v-Abl-mediated pre-B-cell... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Available paired tissue samples from breast tumors known to harbor mutations underwent massARRAY gen... | DisGeNET | Detail |
AKT1 (E17K) mutation in pancreatic cancer. | DisGeNET | Detail |
AKT1 pleckstrin homology domain E17K activating mutation in endometrial carcinoma. | DisGeNET | Detail |
Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). | DisGeNET | Detail |
The AKT1 (E17K) mutation has been reported in some tumour types (breast, colorectal, ovarian and lun... | DisGeNET | Detail |
Activating E17K mutation in the gene encoding the protein kinase AKT1 in a subset of squamous cell c... | DisGeNET | Detail |
NA | DisGeNET | Detail |
AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. | DisGeNET | Detail |
The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly,... | DisGeNET | Detail |
Here we report the identification of a somatic mutation in human breast, colorectal and ovarian canc... | DisGeNET | Detail |
The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly,... | DisGeNET | Detail |
They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gen... | DisGeNET | Detail |
Available paired tissue samples from breast tumors known to harbor mutations underwent massARRAY gen... | DisGeNET | Detail |
The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly,... | DisGeNET | Detail |
Recently, a somatic mutation in AKT1 (E17K) has been detected in breast, colorectal, lung and ovaria... | DisGeNET | Detail |
We analysed the presence of the AKT1 (E17K) mutation in 89 endometrial cancer tissue specimens and i... | DisGeNET | Detail |
Moreover, SUMOylation loss dramatically reduced Akt1 E17K-mediated cell proliferation, cell migratio... | DisGeNET | Detail |
AKT1 mutations in bladder cancer: identification of a novel oncogenic mutation that can co-operate w... | DisGeNET | Detail |
A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. | DisGeNET | Detail |
We analysed the presence of the AKT1 (E17K) mutation in 89 endometrial cancer tissue specimens and i... | DisGeNET | Detail |
NA | DisGeNET | Detail |
AKT1 mutations in bladder cancer: identification of a novel oncogenic mutation that can co-operate w... | DisGeNET | Detail |
E17K substitution in AKT1 in prostate cancer. | DisGeNET | Detail |
E17K substitution in AKT1 in prostate cancer. | DisGeNET | Detail |
NA | DisGeNET | Detail |
An oncogenic mutation (G49A:E17K) in the AKT1 gene has been described recently in human breast, colo... | DisGeNET | Detail |
The transforming mutation E17K/AKT1 is not a major event in B-cell-derived lymphoid leukaemias. | DisGeNET | Detail |
This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and... | DisGeNET | Detail |
Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colore... | DisGeNET | Detail |
AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. | DisGeNET | Detail |
They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gen... | DisGeNET | Detail |
They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gen... | DisGeNET | Detail |
Our data provide evidence that, although AKT1 mutations are apparently rare in lung cancer (1.9%), t... | DisGeNET | Detail |
An earlier study discovered an oncogenic AKT1 gene mutation (AKT1 E17K) in breast, colorectal and ov... | DisGeNET | Detail |
Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leu... | DisGeNET | Detail |
The E17K change results in constitutive AKT1 activation and induces leukaemia in mice. | 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
- rs121434592 dbSNP
- Genome
- hg19
- Position
- chr14:105,246,551-105,246,551
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- E17K
- Transcript 1 (CIViC Variant)
- ENST00000407796.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/4
- Summary (CIViC Variant)
- AKT1 E17K is a recurrent mutation that has been observed in breast, colorectal, lung, and ovarian cancer. It has been convincingly shown to be an activating mutation resulting in PI3K/AKT/mTOR pathway activity. It has been suggested that this mutation decreases the cell's sensitivity to AKT1 allosteric kinase inhibitors. This, and other AKT1 mutations, are the subject of much research and development for therapeutics.
- East Asian Chromosome Counts (ExAC)
- 8618
- 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)
- 118672
- 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)
- 8.426587569098018E-6
Genome browser