PIK3CA (P42336) variants and mutations

PIK3CA (also known as P42336) is a human protein-coding gene encoding a phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein. Its p110-alpha catalytic activity generates PIP3 and activates AKT-dependent growth, survival, and metabolic signaling downstream of many receptors. Activating variants are frequent cancer drivers and, when present mosaically during development, can cause PIK3CA-related overgrowth spectrum. This analysis covers 4,169 PIK3CA variants and mutations. Of these, 27% have computational variant effect predictions. Disease context includes megalencephaly-capillary malformation-polymicrogyria syndrome, CLOVE syndrome, and CLOVES syndrome. Example PIK3CA variants include M1T, P2A, and P2R.

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 PIK3CA variants

Examples include M1T, P2A, P2R, P2S, P2T, P2H, P2P, P3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.