TNFRSF1A (P19438) variants and mutations

TNFRSF1A (also known as P19438) is a human protein-coding gene encoding a tumor necrosis factor receptor superfamily member 1A protein. It mediates many inflammatory and cell-death responses to TNF through NF-kappaB, MAPK, and death-domain signaling. Dominant pathogenic variants that alter receptor handling cause TNF receptor-associated periodic syndrome, an inherited autoinflammatory disease. This analysis covers 973 TNFRSF1A variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes TNF receptor 1-associated periodic fever syndrome, Tumor necrosis factor receptor 1 associated periodic syndrome, and multiple sclerosis. Example TNFRSF1A variants include L3F, S4F, and T5N.

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 TNFRSF1A variants

Examples include L3F, S4F, T5N, T5P, V6M, P7A, P7T, D8A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.