NXT1
Chr 20nuclear transport factor 2 like export factor 1
Also known as: MTR2, P15
The protein functions as a nuclear export factor that stimulates export of proteins containing nuclear export signals and facilitates export of various RNAs including U1 snRNA, tRNA, and mRNA through both CRM1-dependent and independent pathways. Mutations in NXT1 cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants, suggesting haploinsufficiency may be tolerated but complete loss of function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
35 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 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 11 | 1 | 0 | 12 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 11 | 22 | 0 | 33 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NXT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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