TRAF3IP1
Chr 2ARTRAF3 interacting protein 1
Also known as: CFAP116, FAP116, IFT54, MIP-T3, MIPT3, SLSN9
The protein interacts with TNF receptor-associated factor 3, inhibits IL13 signaling, and regulates microtubule cytoskeleton organization and ciliogenesis. Mutations cause Senior-Loken syndrome 9, a ciliopathy affecting the kidneys and retina with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variation (LOEUF 0.737), suggesting that complete loss of function may be required for disease manifestation.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 6 | 0 | 6 | 0 | 12 |
Likely Pathogenic | 7 | 0 | 0 | 0 | 7 |
VUS | 1 | 96 | 8 | 0 | 105 |
Likely Benign | 0 | 0 | 21 | 20 | 41 |
Benign | 0 | 0 | 9 | 0 | 9 |
Conflicting | — | 2 | |||
| Total | 14 | 96 | 44 | 20 | 176 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TRAF3IP1 · 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