PIK3CB (P42338) variants and mutations

PIK3CB (also known as P42338) is a human protein-coding gene encoding a phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform protein. It generates PIP3 downstream of growth-factor and G-protein-coupled receptors, activating AKT and other signaling pathways that regulate survival and metabolism. Some PTEN-deficient tumors become particularly dependent on p110beta activity, making it a therapeutic target. This analysis covers 1,885 PIK3CB variants and mutations. Of these, 47% have computational variant effect predictions. Disease context includes cancer, neurodegenerative disease, and Alzheimer disease. Example PIK3CB variants include C2F, C2G, and C2S.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable PIK3CB variants

Examples include C2F, C2G, C2S, S4C, S4G, S4R, S4T, F5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.