TNFRSF1B (P20333) variants and mutations

TNFRSF1B (also known as P20333) is a human protein-coding gene encoding a tumor necrosis factor receptor superfamily member 1B protein. It responds preferentially to membrane-bound TNF and modulates survival, proliferation, and immune regulation in selected lymphocyte and vascular populations. Rare variants can disturb immune homeostasis, while the receptor is being explored as a therapeutic target in autoimmunity and cancer. This analysis covers 747 TNFRSF1B variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes hypothyroidism, thyroid gland disorder, and neurodegenerative disease. Example TNFRSF1B variants include A2T, A2S, and A2P.

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 TNFRSF1B variants

Examples include A2T, A2S, A2P, A2G, A2E, A2V, A2A, P3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.