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: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0596263
Disease:
Carcinogenesis
0.040 GeneticVariation BEFREE Oncogenic AKT1(E17K) mutation induces mammary hyperplasia but prevents HER2-driven tumorigenesis. 27004402 2016
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0596263
Disease:
Carcinogenesis
0.040 GeneticVariation BEFREE Moreover, SUMOylation loss dramatically reduced Akt1 E17K-mediated cell proliferation, cell migration, and tumorigenesis. 23884910 2013
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0596263
Disease:
Carcinogenesis
0.040 GeneticVariation BEFREE To show the involvement of AKT1(E17K) directly in v-Abl-mediated tumorigenesis, we infected bone marrow cells from mice with bicistronic retroviruses encoding v-Abl and either wild-type or the mutant AKT1. 20440266 2010
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0596263
Disease:
Carcinogenesis
0.040 GeneticVariation BEFREE Overall, the evidence indicates that the molecular mechanism underlying E17K oncogenesis is a broadened target lipid selectivity that allows high-affinity binding to PI(4,5)P(2). 18954143 2008