TRPV3

transient receptor potential cation channel subfamily V member 3

Summary

This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Known Variants356 total

rsidPosition (GRCh37)AllelesClassClinVar
rs91102344417:3,413,783T/A—uncertain significance
rs88605283517:3,413,871G/C—uncertain significance
rs1782278917:3,413,904C/T—benign
rs88605283717:3,413,916C/G—uncertain significance
rs57135496817:3,413,953C/T—benign
rs11701970117:3,413,956C/T—benign
rs18853115517:3,414,015A/G—benign
rs15007255917:3,414,056C/T—benign
rs227115617:3,414,057A/G—benign
rs227115717:3,414,062A/G—benign
rs88605283817:3,414,063C/T—uncertain significance
rs207410314517:3,414,097G/T—uncertain significance
rs991302817:3,414,135T/G—benign
rs227115817:3,414,160T/C—benign
rs77300785917:3,414,166C/A—uncertain significance
rs88605283917:3,414,316G/C—uncertain significance
rs19013632317:3,414,403G/A—uncertain significance
rs207410713117:3,414,427C/A—uncertain significance
rs18218754817:3,414,428C/T—benign
rs55161964917:3,414,451T/G—benign
rs76083755217:3,414,454G/A—uncertain significance
rs11804353217:3,414,482T/C—benign
rs18722694617:3,414,509T/C—uncertain significance
rs88605284017:3,414,540G/A—uncertain significance
rs88605284117:3,414,589C/A—uncertain significance
rs14774483617:3,414,600C/T—benign
rs14235901217:3,414,601G/A—benign
rs57174764017:3,414,607C/T—benign
rs88605284217:3,414,721A/G—uncertain significance
rs14633841517:3,414,726C/T—benign
rs57457278517:3,414,734A/C—benign
rs479050217:3,414,774T/C—benign
rs77967554317:3,414,779G/A—uncertain significance
rs207411399817:3,414,820G/A—uncertain significance
rs88605284317:3,414,846A/G—uncertain significance
rs479050317:3,414,859C/T—benign
rs88605284417:3,414,915A/G—uncertain significance
rs479050417:3,414,939G/A—benign
rs14786832417:3,415,042G/T—benign
rs54522535217:3,415,058T/C—benign
rs479050517:3,415,096C/T—benign
rs5973107017:3,415,117C/T—benign
rs991244817:3,415,118G/A—benign
rs11501102517:3,415,124A/C—benign
rs57589018417:3,415,139T/G—benign
rs14368589917:3,415,143T/C—benign
rs55452924317:3,415,157T/G—uncertain significance
rs75399479717:3,415,192T/C—uncertain significance
rs7903127817:3,415,197T/A—benign
rs125035142917:3,415,243T/C—uncertain significance
rs14803708517:3,415,261G/A—benign
rs88605284517:3,415,271A/C—uncertain significance
rs104368327317:3,415,368G/A—uncertain significance
rs208789217:3,415,370G/T—benign
rs7645664017:3,415,421C/G—benign
rs98110496317:3,415,444A/G—uncertain significance
rs88605284617:3,415,542C/T—uncertain significance
rs88605284717:3,415,586G/C—uncertain significance
rs501053617:3,415,620C/G—uncertain significance
rs581889817:3,415,621A/G—benign
rs930317717:3,415,646A/G—benign
rs150761417:3,415,678T/G—benign
rs98115733117:3,415,711G/A—uncertain significance
rs54256803117:3,415,726C/T—benign
rs7397775017:3,415,787C/T—benign
rs94347333117:3,415,831A/G—uncertain significance
rs207412769017:3,415,883G/T—uncertain significance
rs99927344517:3,415,931C/T—uncertain significance
rs207412847717:3,415,939G/A—uncertain significance
rs150761517:3,415,982C/G—benign
rs88605284817:3,415,993C/T—uncertain significance
rs75110411917:3,416,025G/A—uncertain significance
rs144386817117:3,416,100C/G—uncertain significance
rs207413114017:3,416,106A/G—uncertain significance
rs55873076417:3,416,111A/T—likely benign
rs14490974217:3,416,128T/G—benign
rs56901525717:3,416,168A/G—uncertain significance
rs1085286017:3,416,172A/G—benign
rs5587564917:3,416,262A/T—benign
rs1085286117:3,416,271C/T—benign
rs720904717:3,416,309A/C—benign
rs76706180617:3,416,369T/C—uncertain significance
rs75869868017:3,416,374T/C—uncertain significance
rs720881117:3,416,555A/C—benign
rs88605285117:3,416,580T/C—uncertain significance
rs13874863417:3,416,635T/A—benign
rs125914990917:3,416,659G/T—uncertain significance
rs54441056117:3,416,932C/G—benign
rs54567527917:3,416,935G/A—uncertain significance
rs100663044917:3,417,004A/G—uncertain significance
rs37532617517:3,417,025C/T—benign
rs74576187317:3,417,079C/G—uncertain significance
rs88605285217:3,417,119T/G—uncertain significance
rs90641817:3,417,123C/T—benign
rs88605285317:3,417,126T/C—uncertain significance
rs14618891217:3,417,127C/T—benign
rs88605285417:3,417,137C/G—uncertain significance
rs54588610417:3,417,148G/C—benign
rs18845589417:3,417,153G/A—benign
rs75158550017:3,417,162G/A—uncertain significance

Showing 100 of 356 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.