NUP54
Chr 4ARnucleoporin 54
Also known as: DYT37
NUP54 encodes a nucleoporin that is a component of the nuclear pore complex required for trafficking of molecules across the nuclear membrane. Mutations cause autosomal recessive dystonia 37, an early-onset dystonia with striatal lesions. The gene shows high constraint against loss-of-function variants (LOEUF 0.454), suggesting intolerance to reduced protein levels.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
104 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 | 4 | 22 | 0 | 26 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 44 | 7 | 0 | 51 |
Likely Benign | 0 | 2 | 0 | 1 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 50 | 29 | 1 | 80 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NUP54 · 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