RANBP1
Chr 22RAN binding protein 1
Also known as: HTF9A
This protein regulates nucleocytoplasmic transport by forming complexes with RAN GTPase and controlling the movement of proteins and nucleic acids between the nucleus and cytoplasm, and is required for normal mitotic spindle assembly. Mutations cause autosomal dominant neurodevelopmental disorder with microcephaly, seizures, and brain malformations. The gene is highly constrained against loss-of-function variants, indicating intolerance to disruption.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
449 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 | 370 | 0 | 370 |
Likely Pathogenic | 0 | 0 | 9 | 0 | 9 |
VUS | 1 | 41 | 11 | 0 | 53 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 1 | 42 | 391 | 3 | 437 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RANBP1 · 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