PRKCA (Protein kinase C alpha type) variants and mutations

PRKCA (also known as Protein kinase C alpha type) is a human protein-coding gene encoding a protein kinase C alpha type protein. Its annotated function is calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion…. It is annotated at the cytoplasm. This analysis covers 672 PRKCA variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes acute myeloid leukemia, hypertrophic cardiomyopathy, and mast cell leukemia. Example PRKCA variants include A2G, A2T, and D3D.

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 PRKCA variants

Examples include A2G, A2T, D3D, V4I, V4G, V4V, F5S, P6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.