RGP1
Chr 9RGP1 partner of RAB6A GEF complex
Also known as: KIAA0258
RGP1 encodes a protein that forms a complex with RIC1 to function as a guanine nucleotide exchange factor, activating RAB6A to facilitate fusion of endosome-derived vesicles with the Golgi and participate in mannose-6-phosphate receptor recycling. Mutations cause autosomal recessive developmental delay with seizures, microcephaly, and movement abnormalities, typically presenting in early childhood. The gene is highly intolerant to loss-of-function variants, indicating that both functional copies are required for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
168 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 | 65 | 0 | 65 |
Likely Pathogenic | 0 | 0 | 9 | 0 | 9 |
VUS | 0 | 70 | 9 | 0 | 79 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 0 | 71 | 86 | 0 | 157 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RGP1 · 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