RARRES1

Chr 3

retinoic acid receptor responder 1

ENSG00000118849UniProt: P49788OMIM: 605090

Inhibitor of the cytoplasmic carboxypeptidase AGBL2, may regulate the alpha-tubulin tyrosination cycle

OMIMResearchGenerating clinical summary…
LOEUF 1.61
Clinical Summary— RARRES1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.61LOEUF
pLI 0.000
Z-score -0.08
OE 1.02 (0.67–1.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.82Z-score
OE missense 0.79 (0.67–0.94)
98 obs / 123.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.02 (0.67–1.61)
0≤0.351.4
Missense OE?0.79 (0.67–0.94)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 13 / 12.7Missense obs/exp: 98 / 123.8Syn Z: 0.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RARRES1 · 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.

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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