JPH2

junctophilin 2

Summary

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]

Known Variants736 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1304382420:42,741,900C/T—benign
rs56160473820:42,742,143T/A—uncertain significance
rs11683425920:42,742,258T/G—benign
rs286779420:42,743,153A/G—benign
rs56572027020:42,743,163G/A—likely benign
rs39804067120:42,743,247T/C—likely benign
rs5617030520:42,743,249C/T—benign
rs11515492620:42,743,298G/A—likely benign
rs105752431620:42,743,407G/A—likely benign
rs20073058820:42,743,433C/T—likely benign
rs76689506620:42,743,442C/A—likely benign
rs207217468720:42,743,449T/A—uncertain significance
rs251571690420:42,743,450G/C—uncertain significance
rs91741369820:42,743,453C/T—uncertain significance
rs609393520:42,743,454G/A—benign
rs117109376820:42,743,457G/A—likely benign
rs251571692620:42,743,461A/G—uncertain significance
rs54093393920:42,743,465C/T—uncertain significance
rs77877425620:42,743,471C/T—uncertain significance
rs18430745520:42,743,472G/A—likely benign
rs77997709520:42,743,475G/A—likely benign
rs74712904020:42,743,492T/C—uncertain significance
rs140503447020:42,743,506G/A—uncertain significance
rs78178025220:42,743,509T/C—uncertain significance
rs130442557220:42,743,512G/A—uncertain significance
rs138160314920:42,743,514G/C—likely benign
rs142814285520:42,743,516C/T—uncertain significance
rs75565691620:42,743,531G/A—likely benign
rs37541402020:42,743,533G/A—benign
rs11152144820:42,743,616G/C—likely benign
rs726766820:42,744,060C/T—likely benign
rs610363120:42,744,159C/G—benign
rs11701196020:42,744,216T/C—likely benign
rs5606194620:42,744,265G/C—benign
rs77614197120:42,744,293C/T—likely benign
rs20161522920:42,744,294G/A—likely benign
rs251571758020:42,744,297A/G—likely benign
rs251571758620:42,744,300C/G—uncertain significance
rs78138454020:42,744,323C/T—likely benign
rs76629504420:42,744,324G/T—uncertain significance
rs88603908620:42,744,325C/T—uncertain significance
rs99520467420:42,744,326C/T—likely benign
rs88603917020:42,744,328C/G—uncertain significance
rs135540606420:42,744,331C/A—uncertain significance
rs102671436120:42,744,333G/T—uncertain significance
rs14809397520:42,744,338T/C—likely benign
rs160082867720:42,744,340C/T—uncertain significance
rs55432090720:42,744,341G/A—likely benign
rs251571763920:42,744,343C/A—uncertain significance
rs14233384120:42,744,344C/T—likely benign
rs156918056320:42,744,351C/T—uncertain significance
rs124718927920:42,744,352G/A—uncertain significance
rs117526103720:42,744,354G/A—uncertain significance
rs101509948120:42,744,357T/G—uncertain significance
rs77841029620:42,744,364T/C—uncertain significance
rs99778331420:42,744,365G/T—likely benign
rs11131938820:42,744,367C/T—uncertain significance
rs76834755720:42,744,371C/T—likely benign
rs207218394120:42,744,373C/T—uncertain significance
rs160082876320:42,744,378G/C—uncertain significance
rs74776293020:42,744,379T/A—uncertain significance
rs131387612020:42,744,382G/A—likely benign
rs103798327320:42,744,383C/T—likely benign
rs129005008520:42,744,387C/G—uncertain significance
rs251571771020:42,744,391C/T—uncertain significance
rs118280063320:42,744,398C/T—likely benign
rs141886284620:42,744,404G/A—likely benign
rs214583805820:42,744,409T/C—uncertain significance
rs214583805920:42,744,411G/T—uncertain significance
rs140984142020:42,744,412C/G—uncertain significance
rs75980699320:42,744,414C/T—uncertain significance
rs251571773420:42,744,415T/C—uncertain significance
rs36756372320:42,744,419C/G—conflicting classifications of pathogenicity
rs20014971320:42,744,421C/T—conflicting classifications of pathogenicity
rs76086572120:42,744,422G/A—likely benign
rs76409341020:42,744,425T/C—likely benign
rs156918068020:42,744,427T/G—uncertain significance
rs214583809520:42,744,433T/C—uncertain significance
rs125987770620:42,744,436T/C—uncertain significance
rs251571775420:42,744,443G/C—likely benign
rs251571775720:42,744,444G/C—uncertain significance
rs75778435720:42,744,446C/T—likely benign
rs75082899620:42,744,448C/G—uncertain significance
rs75462367920:42,744,452C/T—likely benign
rs207218484620:42,744,453T/C—uncertain significance
rs78095866920:42,744,454T/C—uncertain significance
rs76928459720:42,744,457C/T—uncertain significance
rs77718312620:42,744,458G/A—likely benign
rs74919648320:42,744,460G/C—uncertain significance
rs77103770020:42,744,462G/T—uncertain significance
rs37661268720:42,744,463T/C—conflicting classifications of pathogenicity
rs75946870720:42,744,464C/G—uncertain significance
rs20008142520:42,744,468C/A—uncertain significance
rs54327683320:42,744,469G/A—uncertain significance
rs76600081920:42,744,470T/G—likely benign
rs139753335520:42,744,471G/A—uncertain significance
rs75391419320:42,744,477T/C—uncertain significance
rs135441957620:42,744,478C/T—uncertain significance
rs98834130820:42,744,479G/C—likely benign
rs55654622020:42,744,489A/G—conflicting classifications of pathogenicity

Showing 100 of 736 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.