RANGRF
Chr 17RAN guanine nucleotide release factor
Also known as: HSPC165, HSPC236, MOG1, RANGNRF
The protein functions as a guanine nucleotide release factor that regulates RAN-dependent mitotic spindle dynamics and enhances expression of the SCN5A cardiac sodium channel at the cell membrane. Mutations cause autosomal recessive epileptic encephalopathy with onset in early infancy, characterized by severe seizures and developmental delays. The gene shows tolerance to loss-of-function variants (low constraint), which is consistent with the recessive inheritance pattern observed in affected patients.
Refuted — evidence has disproved this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
235 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 | 17 | 0 | 17 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 12 | 87 | 18 | 3 | 120 |
Likely Benign | 5 | 12 | 34 | 30 | 81 |
Benign | 0 | 0 | 6 | 3 | 9 |
Conflicting | — | 2 | |||
| Total | 17 | 99 | 75 | 36 | 229 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RANGRF · 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