RABGAP1
Chr 9RAB GTPase activating protein 1
Also known as: GAPCENA, TBC1D11
The protein functions as a GTPase-activating protein for RAB6A and participates in microtubule nucleation by the centrosome and the metaphase-anaphase transition during cell division. Loss-of-function mutations in RABGAP1 cause autosomal recessive neurodevelopmental disorders. The gene is highly intolerant to loss-of-function variants, indicating that haploinsufficiency is the likely pathogenic mechanism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
217 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 | 1 | 0 | 29 | 0 | 30 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 2 | 143 | 5 | 0 | 150 |
Likely Benign | 0 | 6 | 0 | 1 | 7 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 4 | 149 | 35 | 2 | 190 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RABGAP1 · 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