PIK3CG (P48736) variants and mutations

PIK3CG (also known as P48736) is a human protein-coding gene encoding a phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform protein. Its annotated function is phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to…. It is annotated at the cytoplasm. This analysis covers 5,439 PIK3CG variants and mutations. Of these, 32% have computational variant effect predictions. Disease context includes B-cell chronic lymphocytic leukemia, immunodeficiency 72 with autoinflammation, and follicular lymphoma. Example PIK3CG variants include E2*, E2D, and E2G.

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, MaveDB, LitVar.

Notable PIK3CG variants

Examples include E2*, E2D, E2G, E2K, E2Q, L3M, L3P, L3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.