PRKCB (Protein kinase C beta type) variants and mutations

PRKCB (also known as Protein kinase C beta type) is a human protein-coding gene encoding a protein kinase C beta type protein. Its annotated function is calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis…. It is annotated at the cytoplasm. This analysis covers 1,025 PRKCB variants and mutations. Of these, 54% have computational variant effect predictions. Disease context includes acute myeloid leukemia, mast cell leukemia, and systemic mastocytosis. Example PRKCB variants include A2V, A2T, and A2P.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable PRKCB variants

Examples include A2V, A2T, A2P, A2S, A2G, D3E, D3Y, D3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.