TRPV1
Chr 17transient receptor potential cation channel subfamily V member 1
Also known as: VR1
The protein encoded by this gene is a non-selective calcium-permeable cation channel that detects noxious chemical and thermal stimuli, serving as a receptor for capsaicin and temperatures above 42°C, and plays a role in inflammatory pain and hyperalgesia. Mutations in TRPV1 cause autosomal recessive episodic pain syndrome with autonomic dysfunction, characterized by recurrent episodes of severe pain associated with autonomic features. This gene is not highly constrained against loss-of-function variants based on population data.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRPV1 · 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
Growing Up in Multifactorial Risk Conditions
ENROLLING BY INVITATIONEfficacy and Safety of Stapokibart in Non-Allergic Rhinitis With Eosinophilia Syndrome
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools