TRPV1

transient receptor potential cation channel subfamily V member 1

Summary

Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants89 total

rsidPosition (GRCh37)AllelesClassClinVar
rs479052117:3,469,766T/C3 prime UTR variant—
rs479052217:3,469,853A/C3 prime UTR variant—
rs20162241417:3,470,120C/T—uncertain significance
rs20010815217:3,470,126C/T—uncertain significance
rs20097881817:3,470,152T/C—uncertain significance
rs126522506717:3,470,272C/T—uncertain significance
rs20079368217:3,474,810C/T—likely benign
rs254378543517:3,474,883T/G—uncertain significance
rs22454717:3,475,018A/T——
rs97558300117:3,475,476C/T—uncertain significance
rs77112312917:3,475,482C/T—uncertain significance
rs87761017:3,475,490C/Tsynonymous variant—
rs146285746017:3,475,525C/A—uncertain significance
rs207489131417:3,477,013T/G—uncertain significance
rs86860593317:3,477,157C/T—likely benign
rs78148742817:3,477,165C/T—uncertain significance
rs37545805717:3,477,173A/C—benign
rs20060109317:3,477,184A/G—uncertain significance
rs20162383317:3,477,192G/A—uncertain significance
rs11417986317:3,477,194C/T—benign
rs19953962617:3,477,195G/A—likely benign
rs16136417:3,477,812C/Tregulatory region variant—
rs991320917:3,480,433G/C—likely benign
rs806508017:3,480,447T/Cmissense variant—
rs37532196817:3,480,464C/T—uncertain significance
rs117195875017:3,480,906C/T—uncertain significance
rs20030064417:3,480,938G/T—uncertain significance
rs78050894317:3,480,962C/T—uncertain significance
rs1763328817:3,483,785T/C—benign
rs74919847017:3,486,688G/T—likely benign
rs22453417:3,486,702G/Cmissense variant—
rs250749225417:3,486,708T/G—uncertain significance
rs22453717:3,487,202G/Aintron variant—
rs19960091117:3,489,073C/T—likely benign
rs20165407117:3,489,145T/C—uncertain significance
rs20102294917:3,489,155G/T—uncertain significance
rs20131785817:3,489,208T/C—uncertain significance
rs20055850617:3,489,216C/T—uncertain significance
rs20193859217:3,491,497G/C—uncertain significance
rs76065361417:3,491,541C/G—uncertain significance
rs20171847517:3,491,622C/T—uncertain significance
rs20055042517:3,493,112C/T—uncertain significance
rs19979770017:3,493,126A/G—uncertain significance
rs77414560617:3,493,152G/C—likely pathogenic
rs20097133117:3,493,178T/A—uncertain significance
rs121565207517:3,493,180G/A—uncertain significance
rs22274717:3,493,200C/Amissense variant—
rs20221760617:3,493,220T/C—uncertain significance
rs123521026817:3,493,225G/A—uncertain significance
rs91823147617:3,493,237G/A—uncertain significance
rs20028380117:3,493,248C/T—likely benign
rs141691482817:3,493,274C/T—uncertain significance
rs77777207217:3,493,282A/C—conflicting classifications of pathogenicity
rs20157886617:3,493,297G/A—uncertain significance
rs77897287217:3,493,363T/C—uncertain significance
rs57626452517:3,493,563C/A—uncertain significance
rs116098900117:3,493,600C/T—uncertain significance
rs19969373717:3,493,618C/T—uncertain significance
rs14938611117:3,493,636T/C—benign
rs20156642317:3,493,667G/A—likely benign
rs19966043017:3,494,269C/T—uncertain significance
rs52747556817:3,494,275G/A—uncertain significance
rs20064099917:3,494,286G/A—likely benign
rs250751905917:3,494,295C/G—uncertain significance
rs250751929617:3,494,342T/A—uncertain significance
rs129533308717:3,494,362T/C—uncertain significance
rs76714833317:3,494,568C/T—uncertain significance
rs77782715917:3,494,580T/A—uncertain significance
rs37749995817:3,494,613C/T—uncertain significance
rs20028359017:3,494,625C/T—likely benign
rs11404622717:3,495,352C/T—benign
rs36786509517:3,495,368C/T—uncertain significance
rs22274917:3,495,374G/Amissense variant—
rs20193889217:3,495,384T/C—likely benign
rs20102127517:3,495,401T/C—likely benign
rs102086352717:3,495,416T/A—uncertain significance
rs52819049617:3,495,430G/T—uncertain significance
rs5609520917:3,495,465C/T—benign
rs100738941817:3,495,493C/T—uncertain significance
rs20126666317:3,495,529T/C—uncertain significance
rs20156183717:3,495,533G/T—uncertain significance
rs20077730317:3,495,575G/A—uncertain significance
rs20188215117:3,495,578C/G—uncertain significance
rs156767220017:3,495,582G/T—uncertain significance
rs207516976817:3,495,587T/C—likely benign
rs37732040817:3,495,603G/T—uncertain significance
rs76677125917:3,495,622T/G—uncertain significance
rs22274117:3,508,880G/T——
rs374468317:3,513,462T/Cupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.