TRPM7

transient receptor potential cation channel subfamily M member 7

Summary

This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]

Known Variants155 total

rsidPosition (GRCh37)AllelesClassClinVar
rs241407315:50,850,558A/G——
rs241407215:50,850,562T/Adownstream gene variant—
rs716362815:50,851,203C/G——
rs1107079515:50,853,372T/Cdownstream gene variant—
rs61625615:50,853,571A/Gdownstream gene variantbenign
rs36798313715:50,853,888C/T—uncertain significance
rs36878081415:50,853,958C/T—uncertain significance
rs254217291515:50,862,095A/G—uncertain significance
rs20115951115:50,862,297T/C—benign
rs11789971215:50,862,357A/G—likely benign
rs11493390715:50,866,511G/A—benign
rs254219218915:50,866,623A/G—uncertain significance
rs254219224815:50,866,644G/A—uncertain significance
rs5632533815:50,866,655C/T—likely benign
rs47335715:50,867,082G/A—benign
rs13929113915:50,867,089C/T—benign
rs20167756915:50,867,127G/T—likely benign
rs90927555315:50,867,140T/C—uncertain significance
rs1696377415:50,867,142C/T—benign
rs76372518415:50,867,221T/C—uncertain significance
rs18125469815:50,867,290T/C—likely benign
rs139945047915:50,867,293G/A—uncertain significance
rs36888816815:50,870,845T/C—uncertain significance
rs145825290915:50,873,071A/C—uncertain significance
rs37305806915:50,873,072T/C—uncertain significance
rs241405915:50,873,344T/Aintron variant—
rs104801485815:50,875,268T/C—uncertain significance
rs53938315:50,878,478G/A—benign
rs310989415:50,878,574G/Aintron variant—
rs254225143315:50,878,598A/G—uncertain significance
rs254225146815:50,878,606G/A—uncertain significance
rs74578090715:50,878,628C/T—uncertain significance
rs804291915:50,878,630G/Amissense variantrisk factor
rs148279902315:50,878,675G/A—uncertain significance
rs75209812015:50,878,679T/C—uncertain significance
rs254226840015:50,881,844T/C—uncertain significance
rs128381930515:50,881,845C/T—uncertain significance
rs76794889815:50,881,849G/T—uncertain significance
rs90058022015:50,881,850T/C—uncertain significance
rs1764552315:50,882,645T/Cintron variant—
rs75026432615:50,884,103C/T—uncertain significance
rs37123240015:50,884,116G/A—uncertain significance
rs144447778515:50,884,120C/T—uncertain significance
rs91269591115:50,884,131T/C—uncertain significance
rs20138753615:50,884,170T/C—likely benign
rs254228041115:50,884,207G/A—uncertain significance
rs74733423615:50,884,288G/T—uncertain significance
rs254228072515:50,884,298A/C—uncertain significance
rs20224573715:50,884,381A/G—uncertain significance
rs75145575215:50,884,389G/C—uncertain significance
rs36760462215:50,884,464T/C—likely benign
rs254228177115:50,884,534A/G—uncertain significance
rs20135277415:50,884,552C/T—uncertain significance
rs14205650015:50,884,586A/C—benign
rs76768082715:50,884,624T/G—uncertain significance
rs254228260115:50,884,678G/A—uncertain significance
rs20082776715:50,884,776T/C—uncertain significance
rs74577916115:50,885,829C/T—uncertain significance
rs124081973215:50,885,880T/C—uncertain significance
rs56710915:50,885,976G/T—benign
rs48028015:50,886,199G/C—benign
rs64489015:50,886,493C/T—benign
rs148149193815:50,886,689T/C—uncertain significance
rs124957123515:50,886,701T/C—uncertain significance
rs64685615:50,886,972A/C—benign
rs54025715:50,888,175T/A—benign
rs254230182915:50,888,500A/C—pathogenic
rs54382115:50,888,568A/G—benign
rs67501115:50,888,619A/T—benign
rs717483915:50,889,624G/Cintron variant—
rs205970997415:50,891,345C/T—pathogenic
rs254231706015:50,891,346C/G—uncertain significance
rs76646005915:50,891,390G/A—uncertain significance
rs254231754715:50,891,483A/G—pathogenic
rs254231755415:50,891,486T/C—uncertain significance
rs477589215:50,893,114G/A——
rs254234522115:50,897,102A/T—uncertain significance
rs3522446115:50,897,114A/G—benign
rs74810865015:50,897,127C/T—uncertain significance
rs76099613515:50,897,176C/A—uncertain significance
rs205988416415:50,897,203C/T—uncertain significance
rs5568102815:50,897,205A/T—likely benign
rs56002591515:50,897,306C/A—uncertain significance
rs1752035015:50,897,673T/Cintron variant—
rs3564884215:50,899,447A/T—uncertain significance
rs135921851115:50,899,453G/C—uncertain significance
rs1752037815:50,900,606G/Cintron variant—
rs37454318815:50,901,902C/T—uncertain significance
rs20066263115:50,901,903G/A—uncertain significance
rs77068240315:50,902,034T/C—uncertain significance
rs89557477915:50,902,046T/C—uncertain significance
rs254236806815:50,902,052A/G—uncertain significance
rs254236849615:50,902,158C/T—uncertain significance
rs20010690115:50,903,339G/A—uncertain significance
rs108530712315:50,903,409A/C—uncertain significance
rs75330603115:50,903,429T/G—uncertain significance
rs76253128615:50,904,948G/A—uncertain significance
rs51173615:50,905,780G/A—benign
rs133246553815:50,905,933T/C—uncertain significance
rs254238385115:50,905,945G/A—uncertain significance

Showing 100 of 155 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.