GRIPAP1
Chr XGRIP1 associated protein 1
Also known as: GRASP-1
The protein functions as a guanine nucleotide exchange factor that regulates AMPA receptor recycling to dendritic membranes and is required for synaptic plasticity and long-term potentiation. Mutations cause autosomal recessive intellectual disability with seizures and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
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
220 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 | 59 | 0 | 59 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 49 | 7 | 0 | 56 |
Likely Benign | 0 | 2 | 0 | 1 | 3 |
Benign | 0 | 1 | 2 | 4 | 7 |
Conflicting | — | 1 | |||
| Total | 0 | 52 | 70 | 5 | 128 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GRIPAP1 · 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