AKT2 (P31751) variants and mutations

AKT2 (also known as P31751) is a human protein-coding gene encoding a RAC-beta serine/threonine-protein kinase protein. Downstream of insulin and PI3K signaling, it promotes glucose uptake, glycogen synthesis, and metabolic homeostasis in insulin-responsive tissues. Loss-of-function variants can cause severe insulin resistance, whereas activating variants can produce hypoglycemia and asymmetric overgrowth. This analysis covers 950 AKT2 variants and mutations. Of these, 57% have computational variant effect predictions. Disease context includes hypoinsulinemic hypoglycemia and body hemihypertrophy, type 2 diabetes mellitus, and breast cancer. Example AKT2 variants include M1?, N2S, and E3K.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable AKT2 variants

Examples include M1?, N2S, E3K, S5C, V6A, V6F, I7F, I7T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.