TRAF6 (TNF receptor-associated factor 6) variants and mutations

TRAF6 (also known as TNF receptor-associated factor 6) is a human protein-coding gene encoding a TNF receptor-associated factor 6 protein. It functions as a signaling adaptor and ubiquitin ligase downstream of Toll-like, IL-1, and several TNF-family receptors, activating NF-kappaB and MAPK pathways. Dysregulation can disturb immunity, bone remodeling, and inflammatory signaling and contributes to selected cancers. This analysis covers 793 TRAF6 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes autosomal dominant hypohidrotic ectodermal dysplasia, severe acute respiratory syndrome, and vertebral column disorder. Example TRAF6 variants include L3M, L3R, and L4P.

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 TRAF6 variants

Examples include L3M, L3R, L4P, L4Q, E7K, G11E, G11V, S12F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.