CASP3 (Caspase-3) variants and mutations

CASP3 (also known as Caspase-3) is a human protein-coding gene encoding a caspase-3 protein. It acts as a major executioner of apoptosis by cleaving structural, signaling, and repair proteins after activation by upstream caspases. Altered activity influences cancer-cell survival, treatment response, and tissue injury, although established monogenic human disease is uncommon. This analysis covers 499 CASP3 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes neurodegenerative disease, Kawasaki disease, and response to vaccine. Example CASP3 variants include M1?, N3K, and T4A.

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 CASP3 variants

Examples include M1?, N3K, T4A, T4I, T4P, E5*, S7L, V8L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.