TNFAIP3 (P21580) variants and mutations

TNFAIP3 (also known as P21580) is a human protein-coding gene encoding a tumor necrosis factor alpha-induced protein 3 protein. Its A20 ubiquitin-editing activity terminates NF-kappaB signaling after inflammatory receptor activation and helps prevent excessive immune responses. Haploinsufficiency causes early-onset autoinflammatory disease, while somatic loss occurs in several lymphoid malignancies. This analysis covers 1,799 TNFAIP3 variants and mutations. Of these, 58% have computational variant effect predictions. Disease context includes autoinflammatory syndrome, familial, Behcet-like 1, autoinflammatory syndrome, familial, Behcet-like, and psoriasis. Example TNFAIP3 variants include A2D, A2G, 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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable TNFAIP3 variants

Examples include A2D, A2G, A2P, A2T, A2V, A2A, E3*, E3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.