AKT1 (P31749) variants and mutations

AKT1 (also known as P31749) is a human protein-coding gene encoding a RAC-alpha serine/threonine-protein kinase protein. It integrates PI3K-dependent growth-factor signals to promote cell survival, proliferation, glucose metabolism, and protein synthesis. Somatic activating variants occur in multiple cancers, while mosaic activation, especially E17K, causes Proteus syndrome. This analysis covers 1,384 AKT1 variants and mutations. Of these, 37% have computational variant effect predictions. Disease context includes Proteus syndrome, cancer, and Cowden syndrome 6. Example AKT1 variants include S2C, S2G, and S2N.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable AKT1 variants

Examples include S2C, S2G, S2N, S2R, D3N, D3Y, V4G, V4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.