RAB17
Chr 2RAB17, member RAS oncogene family
The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.075
Z-score 1.68
OE 0.37 (0.17–0.95)
Typical tolerance to LoF variation
Missense Constraint?
0.07Z-score
OE missense 0.98 (0.85–1.14)
124 obs / 126.2 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.37 (0.17–0.95)
0≤0.351.4
Missense OE?0.98 (0.85–1.14)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 3 / 8.2Missense obs/exp: 124 / 126.2Syn Z: 0.21
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RAB17 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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