FAS (P25445) variants and mutations

FAS (also known as P25445) is a human protein-coding gene encoding a tumor necrosis factor receptor superfamily member 6 protein. Its engagement by FAS ligand assembles a death-inducing signaling complex that triggers caspase-mediated apoptosis, particularly in activated lymphocytes. Loss-of-function variants can cause autoimmune lymphoproliferative syndrome by preventing normal contraction of immune responses. This analysis covers 643 FAS variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes autoimmune lymphoproliferative syndrome type 1, autoimmune lymphoproliferative syndrome, and lymphoid neoplasm. Example FAS variants include L2R, L2I, and L2P.

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 FAS variants

Examples include L2R, L2I, L2P, G3A, G3D, G3R, G3S, G3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.