OR1C1
Chr 1olfactory receptor family 1 subfamily C member 1
Also known as: HSTPCR27, OR1-42, OR1.5.10, ORL211, TPCR27
OR1C1 encodes an olfactory receptor that detects odorant molecules in the nose and initiates G-protein-coupled signaling to trigger smell perception. This gene is not well-established as a cause of human disease, and loss-of-function variants are likely tolerated given its low constraint scores. OR1C1 is one of many olfactory receptor genes, and isolated dysfunction would not be expected to cause significant clinical phenotypes in pediatric patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative 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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OR1C1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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