CASP8 (Caspase-8) variants and mutations

CASP8 (also known as Caspase-8) is a human protein-coding gene encoding a caspase-8 protein. It initiates death-receptor-mediated apoptosis but also regulates lymphocyte activation and inflammatory signaling. Biallelic loss-of-function variants can cause immunodeficiency with defective apoptosis and lymphocyte homeostasis, while somatic pathway alterations can promote cancer-cell survival. This analysis covers 1,585 CASP8 variants and mutations. Of these, 40% have computational variant effect predictions. Disease context includes autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome with recurrent viral infections, and head and neck squamous cell carcinoma. Example CASP8 variants include M1?, D2H, and F3C.

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 CASP8 variants

Examples include M1?, D2H, F3C, F3L, F3V, S4I, S4T, S4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.