PIK3CD (O00329) variants and mutations

PIK3CD (also known as O00329) is a human protein-coding gene encoding a phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform protein. Its p110-delta activity generates PIP3 primarily in leukocytes and is essential for antigen-receptor and cytokine signaling. Heterozygous activating variants cause activated PI3K-delta syndrome type 1 with immunodeficiency, lymphoproliferation, and immune dysregulation. This analysis covers 1,087 PIK3CD variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes activated PI3K-delta syndrome, immunodeficiency 14b, autosomal recessive, and Combined immunodeficiency with facio-oculo-skeletal anomalies. Example PIK3CD variants include M1?, P2L, and P2T.

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 PIK3CD variants

Examples include M1?, P2L, P2T, P2S, P3A, P3L, P3S, P3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.