TRAF3 (TNF receptor-associated factor 3) variants and mutations

TRAF3 (also known as TNF receptor-associated factor 3) is a human protein-coding gene encoding a TNF receptor-associated factor 3 protein. It coordinates signaling downstream of TNF-receptor-family and innate immune receptors, restraining some NF-kappaB pathways while promoting antiviral interferon responses. Biallelic or dominant pathogenic variants can cause immunodeficiency, and somatic loss contributes to B-cell malignancies. This analysis covers 841 TRAF3 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes Herpetic encephalitis, Eczematoid dermatitis, and asthma. Example TRAF3 variants include E2D, E2Q, and E2E.

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 TRAF3 variants

Examples include E2D, E2Q, E2E, S3L, S3P, S3S, S4G, S4I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.