TRPM2

transient receptor potential cation channel subfamily M member 2

Summary

The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]

Known Variants204 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14272512421:45,773,726G/T—uncertain significance
rs36931869421:45,773,734G/A—uncertain significance
rs20029345321:45,774,547C/T—uncertain significance
rs283855321:45,778,294T/Aintron variant—
rs15089879921:45,783,999A/G—uncertain significance
rs14231011521:45,784,023C/A—uncertain significance
rs14294762721:45,784,071G/A—uncertain significance
rs4547979121:45,784,090G/A—benign
rs77976390321:45,784,094C/T—uncertain significance
rs125130961221:45,784,135C/T—likely benign
rs4555133921:45,784,141G/A—benign
rs283855421:45,784,632G/Cintron variant—
rs728068021:45,786,368C/G—benign
rs91748808321:45,786,652C/T—uncertain significance
rs251813233321:45,786,668G/A—uncertain significance
rs14615406521:45,786,670G/A—likely benign
rs4554414221:45,786,709G/A—benign
rs123017687821:45,789,062G/T—uncertain significance
rs20219785621:45,789,078G/C—uncertain significance
rs7337407821:45,789,156G/T—uncertain significance
rs14945349121:45,789,203C/G—uncertain significance
rs19967610921:45,789,234C/A—likely benign
rs20150617721:45,795,728G/A—uncertain significance
rs77029549621:45,795,803G/A—uncertain significance
rs20073103521:45,795,806G/T—uncertain significance
rs75198691021:45,795,811C/G—uncertain significance
rs19971652921:45,797,656C/T—likely benign
rs727645321:45,797,943C/A—benign
rs20199446721:45,798,893C/A—uncertain significance
rs14356882521:45,798,896C/T—likely benign
rs15095502921:45,798,904G/A—uncertain significance
rs135647343921:45,798,908C/G—uncertain significance
rs36904020921:45,798,911C/G—uncertain significance
rs4548599221:45,799,018G/A—benign
rs37711074821:45,799,049C/T—uncertain significance
rs134162453121:45,799,072A/G—uncertain significance
rs481891721:45,799,280T/Cintron variant—
rs14814027221:45,802,616C/T—uncertain significance
rs14187000521:45,802,620G/A—likely benign
rs118845881321:45,802,623G/A—uncertain significance
rs160218006121:45,802,658G/T—uncertain significance
rs18896333821:45,802,664C/T—likely benign
rs76934761021:45,810,804C/A—uncertain significance
rs76169247521:45,810,822T/G—uncertain significance
rs76757564921:45,810,825G/A—uncertain significance
rs14464449221:45,810,848G/A—likely benign
rs76201660421:45,810,859G/A—uncertain significance
rs18200444021:45,810,873C/T—conflicting classifications of pathogenicity
rs119861700321:45,811,296C/T—uncertain significance
rs155631421:45,811,343T/Gmissense variant—
rs76797972821:45,811,350C/A—uncertain significance
rs77559100521:45,811,372C/T—uncertain significance
rs75077346721:45,811,395G/A—uncertain significance
rs74560575221:45,811,449C/T—uncertain significance
rs136087594821:45,811,450G/A—uncertain significance
rs20188877421:45,811,463C/T—likely benign
rs130016366421:45,811,468G/A—uncertain significance
rs20070241021:45,811,496C/T—benign
rs14993012621:45,815,307T/C—likely benign
rs76723306121:45,815,311C/G—uncertain significance
rs55874405021:45,815,316G/A—likely benign
rs14575495621:45,815,331G/A—likely benign
rs14022408321:45,815,370G/A—uncertain significance
rs37535117321:45,815,402C/T—uncertain significance
rs36834870321:45,815,403G/A—uncertain significance
rs15048469821:45,815,425C/G—likely benign
rs133565149121:45,815,429G/A—uncertain significance
rs15066800521:45,815,575G/A—benign
rs37164570221:45,815,630G/A—benign
rs178543621:45,817,620T/C—benign
rs76086419821:45,817,712C/T—likely benign
rs20025420521:45,817,727C/T—uncertain significance
rs75332822621:45,817,754C/G—uncertain significance
rs77340879021:45,819,244G/A—uncertain significance
rs135079446621:45,819,263C/A—uncertain significance
rs161996821:45,819,977A/G—benign
rs134868079521:45,820,145T/G—uncertain significance
rs77400017521:45,820,178G/A—uncertain significance
rs251699593021:45,820,187G/A—uncertain significance
rs204957419521:45,820,206T/G—uncertain significance
rs76548745521:45,820,211A/C—uncertain significance
rs94088536521:45,820,224C/T—uncertain significance
rs997483121:45,821,529C/T—benign
rs997492721:45,821,582T/Gmissense variant—
rs136452086921:45,821,590C/T—uncertain significance
rs13812357721:45,821,633G/T—likely benign
rs137020954021:45,821,640C/T—uncertain significance
rs37744756321:45,821,663C/G—uncertain significance
rs75818324521:45,821,776G/A—uncertain significance
rs178543721:45,821,794C/Tintron variantbenign
rs13799702321:45,825,042C/T—likely benign
rs93221429221:45,825,046T/C—uncertain significance
rs121208968921:45,825,098T/G—uncertain significance
rs15096272721:45,825,103G/A—benign
rs14906660721:45,825,105C/T—benign
rs251701865221:45,825,131G/A—uncertain significance
rs123125068021:45,825,137C/A—uncertain significance
rs178545321:45,825,462T/G—benign
rs11527938421:45,825,778C/T—benign
rs14540170021:45,825,791C/T—likely benign

Showing 100 of 204 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.