OR6C1

Chr 12

olfactory receptor family 6 subfamily C member 1

Also known as: OST267

NCBI Gene: 390321ENSG00000205330UniProt: Q96RD1

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.78LOEUF
pLI 0.505
Z-score 1.91
OE 0.16 (0.06–0.78)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
-0.68Z-score
OE missense 1.15 (1.02–1.30)
186 obs / 161.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.16 (0.06–0.78)
0≤0.351.4
Missense OE?1.15 (1.02–1.30)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 1 / 6.1Missense obs/exp: 186 / 161.6Syn Z: -0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OR6C1 · 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