OR10AC1

Chr 7

olfactory receptor family 10 subfamily AC member 1 (gene/pseudogene)

Also known as: OR10AC1P

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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

22
ClinVar variants
21
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryOR10AC1
📋
ClinVar Variants
21 Pathogenic / Likely Pathogenic· 1 VUS of 22 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

22 submitted variants in ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic1
VUS1
20
Pathogenic
1
Likely Pathogenic
1
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
20
Likely Pathogenic
1
VUS
1
Likely Benign
0
Benign
0
Total22

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OR10AC1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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