GARNL3
Chr 9GTPase activating Rap/RanGAP domain like 3
Also known as: bA356B19.1
The protein is predicted to function as a GTPase activator, regulating small GTPase-mediated signal transduction pathways. GARNL3 is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.50), suggesting that mutations in this gene would likely cause severe developmental disorders, though specific associated phenotypes have not yet been established in the literature. The inheritance pattern for GARNL3-related conditions remains to be determined.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
167 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 | 34 | 0 | 34 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 0 | 103 | 1 | 0 | 104 |
Likely Benign | 0 | 3 | 1 | 1 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 107 | 37 | 1 | 145 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GARNL3 · 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