OR6M1
Chr 11olfactory receptor family 6 subfamily M member 1
Also known as: OR11-271
The OR6M1 protein is an olfactory receptor that binds odorant molecules in the nose and initiates G protein-coupled signaling to trigger smell perception. This gene is not well-constrained against loss-of-function variants and no Mendelian diseases have been definitively associated with OR6M1 mutations in the current literature. Most olfactory receptor genes are highly tolerant to variation, consistent with the functional redundancy within the large olfactory receptor gene family.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
105 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 51 | 0 | 51 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 44 | 3 | 0 | 47 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 49 | 56 | 0 | 105 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OR6M1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools