OR2I1

Chr 6

olfactory receptor family 2 subfamily I member 1 (gene/pseudogene)

Also known as: HS6M1-14, OR2I1P, OR2I2, OR2I3P, OR2I4P, OR2I5P, OR2I6, OR2I7P

NCBI Gene: 442197ENSG00000237988UniProt: Q8NGU4

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]

28
ClinVar variants
2
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— OR2I1
📋
ClinVar Variants
2 Pathogenic / Likely Pathogenic· 20 VUS of 28 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

28 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2
VUS20
Likely Benign5
Benign1
2
Pathogenic
20
VUS
5
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
2
0
2
Likely Pathogenic
0
0
0
0
0
VUS
0
20
0
0
20
Likely Benign
0
4
0
1
5
Benign
0
1
0
0
1
Total0252128

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OR2I1 · 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 OR2I1

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