TRAF1
Chr 9TNF receptor associated factor 1
Also known as: EBI6, MGC:10353
This gene encodes an adapter protein that regulates NF-kappa-B and JNK signaling pathways and forms heterotrimeric complexes with TRAF2 to control cell survival and apoptosis through E3 ubiquitin ligase activity. The gene shows low constraint to loss-of-function variation (pLI 0.004, LOEUF 0.757), and no established Mendelian disease associations have been reported in pediatric populations. Mutations in this gene have not been definitively linked to inherited neurological disorders in children.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRAF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools