RGS17
Chr 6regulator of G protein signaling 17
Also known as: RGS-17, RGSZ2, hRGS17
This protein regulates G-protein coupled receptor signaling by accelerating GTPase activity of specific G alpha subunits (GNAZ and GNAI2), thereby terminating signals from receptors including muscarinic acetylcholine and dopamine receptors. Mutations in RGS17 have not been definitively associated with human disease. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.641), suggesting haploinsufficiency may not be highly pathogenic.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
45 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 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 17 | 3 | 0 | 20 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 17 | 26 | 0 | 43 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RGS17 · 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