NUP210
Chr 3nucleoporin 210
Also known as: GP210, POM210
The encoded nucleoporin is essential for nuclear pore assembly, fusion, and spacing, serving as a membrane-spanning glycoprotein that maintains structural integrity of nuclear pore complexes that regulate macromolecule transport between nucleus and cytoplasm. Mutations cause neurodevelopmental disorders with intellectual disability and seizures, inherited in an autosomal recessive pattern. This gene shows strong evolutionary constraint against loss-of-function variants, indicating its critical cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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 | 0 | 0 | 2 | 0 | 2 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 142 | 1 | 0 | 143 |
Likely Benign | 0 | 5 | 0 | 1 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 147 | 3 | 1 | 151 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NUP210 · 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