AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514644
rs397514644
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6
0.800 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
dbSNP: rs397514645
rs397514645
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6
0.800 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
dbSNP: rs397514644
rs397514644
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6
A 0.800 CausalMutation CLINVAR
dbSNP: rs397514645
rs397514645
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6
G 0.800 CausalMutation CLINVAR
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE The results obtained in this study suggest that Akti-1/2 might be a better inhibitor for the treatment of BC caused by the E17K mutation in AKT1. 31698236 2019
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897 2018
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE Analysis of TCGA breast cancer data revealed that the mRNA expression, total protein levels, and phosphorylation of various RTKs are decreased in human tumors harboring AKT1(E17K). 27004402 2016
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE The data suggest that AKT1 (E17K) is the most likely disease driver in certain breast cancer patients. 27515171 2016
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE Both AKT inhibitors caused highly significant growth inhibition of breast cancer explant models with AKT1(E17K) mutation. 26351323 2015
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. 23888070 2013
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias. 18392055 2008
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation UNIPROT
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease:
Proteus Syndrome
0.730 GeneticVariation BEFREE Proteus syndrome (PS) is an ultra-rare disease characterized by progressive, disproportionate, segmental overgrowth caused by a somatic gain-of-function mutation p.Glu17Lys in the oncogene AKT1. 31058421 2019
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease:
Proteus Syndrome
0.730 GeneticVariation BEFREE A somatic activating mutation in AKT1, c.49G>A, pGlu17Lys, that results in elevated AKT signaling in mutation-positive cells, is responsible for the mosaic overgrowth condition, Proteus syndrome. 26657992 2015
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease:
Proteus Syndrome
0.730 GeneticVariation BEFREE Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. 21793738 2011
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease:
Proteus Syndrome
0.730 GeneticVariation UNIPROT Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. 21793738 2011
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease:
Proteus Syndrome
0.730 GeneticVariation UNIPROT Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid specificity of the AKT1 PH domain. 18954143 2008
dbSNP: rs2494748
rs2494748
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs61759760
rs61759760
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2494748
rs2494748
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0392885
Disease:
High density lipoprotein measurement
T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs2498796
rs2498796
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0476089
Disease:
Endometrial Carcinoma
A 0.700 GeneticVariation GWASCAT Five endometrial cancer risk loci identified through genome-wide association analysis. 27135401 2016
dbSNP: rs1057519804
rs1057519804
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0025202
Disease:
melanoma
T 0.700 GeneticVariation CLINVAR A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. 24265152 2014
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0027651
Disease:
Neoplasms
0.100 GeneticVariation BEFREE Two mutations were identified in the tumor tissue by NGS and sanger sequencing: AKT1 E17K and BRAF (B-Raf proto-oncogene, serine/threonine kinase) V600E. 31546071 2019
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0027651
Disease:
Neoplasms
0.100 GeneticVariation BEFREE The whole exome sequencing showed that AKT1 E17K mutation was high (26.316%) in tumor tissue, and dynamic monitoring of circulating tumor DNA indicated that AKT1 E17K mutation rate was increasing successively and highly consistent with tumor growth in peripheral blood. 31802899 2019
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0027651
Disease:
Neoplasms
0.100 GeneticVariation BEFREE Results In patients with AKT1 E17K-mutant tumors (n = 52) and a median of five lines of prior therapy, the median PFS was 5.5 months (95% CI, 2.9 to 6.9 months), 6.6 months (95% CI, 1.5 to 8.3 months), and 4.2 months (95% CI, 2.1 to 12.8 months) in patients with estrogen receptor-positive breast, gynecologic, and other solid tumors, respectively. 28489509 2017