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: 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: rs397514644
rs397514644
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. 25189354 2015
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE To determine the prevalence of AKT E17K mutations in melanoma, the most aggressive form of skin cancer, we analysed 137 human melanoma specimens and 65 human melanoma cell lines for the previously described activating mutation of AKT1, and for analogous mutations in AKT2 and AKT3. 18813315 2008