RIT2

Chr 18

Ras like without CAAX 2

Also known as: RIBA, RIN, ROC2

NCBI Gene: 6014ENSG00000152214UniProt: Q99578

RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.30
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — RIT2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.001
Z-score 0.95
OE 0.66 (0.36–1.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.89Z-score
OE missense 0.77 (0.66–0.92)
95 obs / 122.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.36–1.30)
0≤0.351.4
Missense OE?0.77 (0.66–0.92)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 6 / 9.1Missense obs/exp: 95 / 122.8Syn Z: 0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RIT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients