GAPVD1
Chr 9GTPase activating protein and VPS9 domains 1
Also known as: GAPEX5, GAPex-5, RAP6
GAPVD1 encodes a protein that acts as both a GTPase-activating protein and guanine nucleotide exchange factor, regulating endocytosis, insulin receptor internalization, and glucose transporter trafficking. Mutations cause autosomal dominant early-onset epileptic encephalopathy and developmental delay. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
117 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 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 5 | 0 | 0 | 6 |
Likely Benign | 1 | 6 | 4 | 21 | 32 |
Benign | 0 | 2 | 11 | 5 | 18 |
| Total | 2 | 13 | 43 | 26 | 84 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAPVD1 · 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