TSNAX
Chr 1translin associated factor X
Also known as: C3PO, TRAX
The protein acts as an endonuclease that combines with translin to activate the RNA-induced silencing complex (RISC) and facilitates nuclear transport of translin through its bipartite nuclear targeting sequences. Mutations cause autosomal recessive intellectual disability with developmental delay and seizures. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.529), suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
78 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 | 0 | 0 | 35 | 0 | 35 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 28 | 4 | 0 | 32 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 1 | 1 | 2 | 4 |
| Total | 0 | 29 | 43 | 2 | 74 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSNAX · 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
External Resources
Links to major genomics databases and tools