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 Pathogenic Uncertain significance not provided
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 Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164730 OMIM
HGNC 391 HGNC
Ensembl ENSG00000142208 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM33765 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided lower third of oesophagus not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided stomach, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon 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 colon, unspecified 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
Uncertain significance Adenocarcinoma of lung (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic breast somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Uncertain significance Carcinoma of breast (disorder)_Hormone receptor positive malignant neoplasm of breast unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Uncertain significance Carcinoma of bladder (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Uncertain significance Endometrioid carcinoma ovary (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Hepatocellular carcinoma somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Penile cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Trachea (Adenoid cystic carcinoma) somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided colorectal cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided body of stomach 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 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon 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 malignant neoplasm of rectum 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
not provided fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon 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 rectosigmoid junction 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 extrahepatic bile duct 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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-08-18 no assertion criteria provided breast adenocarcinoma somatic Detail
Pathogenic 2011-08-18 no assertion criteria provided Carcinoma of colon somatic Detail
Pathogenic 2011-08-18 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2023-10-31 criteria provided, single submitter Proteus syndrome somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Thyroid tumor somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided bone osteosarcoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Small 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 gastric adenocarcinoma somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Tumor of meninges somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix 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 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Prostate neoplasm somatic Detail
Pathogenic 2022-01-02 criteria provided, single submitter Cowden syndrome 6 germline Detail
Pathogenic 2022-01-06 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer Akt Inhibitor MK2206 D Predictive Does Not Support Sensitivity/Response Somatic 3 23888070 Detail
cancer Capivasertib B Predictive Supports Sensitivity/Response Somatic 4 28489509 Detail
melanoma Vemurafenib D Predictive Supports Resistance Somatic 24265155 Detail
melanoma Uprosertib D Predictive Supports Sensitivity/Response Somatic 2 24735930 Detail
breast cancer Capivasertib C Predictive Supports 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&gt;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

DescrptionSourceLinks
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&gt;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
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