OR1F12

Chr 6

olfactory receptor family 1 subfamily F member 12, pseudogene

Also known as: OR1F12, OR1F12Q, OR6-12, hs6M1-35P

NCBI Gene: 442179UniProt: Q8NHA8

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]

3
ClinVar variants
2
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— OR1F12
📋
ClinVar Variants
2 Pathogenic / Likely Pathogenic· 1 VUS of 3 total submissions
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/OR1F12?content-type=application/json&expand=1

gnomad: Error: Gene not found

pubmed: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

3 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2
VUS1
2
Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————2
Likely Pathogenic
————0
VUS
————1
Likely Benign
————0
Benign
————0
Total—3

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OR1F12 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for OR1F12

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