STIM1

stromal interaction molecule 1

Summary

This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Known Variants648 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1182803711:3,876,894A/G—benign
rs1083520611:3,877,074T/C—benign
rs20179461411:3,877,494T/G—uncertain significance
rs209036449811:3,877,504G/A—uncertain significance
rs106049990411:3,877,507G/A—uncertain significance
rs76524865611:3,877,509A/G—likely benign
rs15052997011:3,877,513G/A—uncertain significance
rs209036534611:3,877,515C/T—likely benign
rs249653829411:3,877,520T/C—uncertain significance
rs75152028611:3,877,522G/A—uncertain significance
rs249653847111:3,877,529G/T—uncertain significance
rs209036708811:3,877,546C/T—uncertain significance
rs209036739711:3,877,550T/G—uncertain significance
rs213517040611:3,877,554C/T—likely benign
rs155494976511:3,877,557G/C—uncertain significance
rs213517045111:3,877,558G/A—uncertain significance
rs20150085211:3,877,562A/G—uncertain significance
rs139581419111:3,877,564A/G—uncertain significance
rs140314332611:3,877,567C/T—uncertain significance
rs249653937511:3,877,568T/A—uncertain significance
rs77945322611:3,877,569C/T—likely benign
rs249653954611:3,877,579C/G—uncertain significance
rs139396365311:3,877,581C/A—uncertain significance
rs36809197511:3,877,591G/C—uncertain significance
rs77829711911:3,877,592C/T—uncertain significance
rs213517085711:3,877,598G/C—uncertain significance
rs156509102311:3,877,600A/T—uncertain significance
rs77134897211:3,877,601C/T—uncertain significance
rs13954064111:3,877,605C/T—likely benign
rs20090751511:3,877,607C/T—uncertain significance
rs55128432411:3,877,608G/A—likely benign
rs20115677011:3,877,610G/C—likely benign
rs20190979411:3,877,611G/A—benign
rs77449963311:3,877,612G/A—uncertain significance
rs15003318911:3,877,614C/G—likely benign
rs213517119311:3,877,616A/G—uncertain significance
rs213517127911:3,877,624G/A—uncertain significance
rs94744835111:3,877,627T/C—uncertain significance
rs249654074611:3,877,629C/T—likely benign
rs209037135111:3,877,634C/G—uncertain significance
rs75575361711:3,877,643A/G—uncertain significance
rs20023393511:3,877,645G/A—likely benign
rs209037187711:3,877,646C/A—likely benign
rs213517151411:3,877,652T/A—likely benign
rs75457028211:3,877,655G/A—likely benign
rs7654859711:3,877,800A/C—likely benign
rs11389723511:3,877,885A/C—likely benign
rs1103012211:3,887,176C/Gregulatory region variant—
rs1103017611:3,912,804T/Gdownstream gene variant—
rs657841811:3,926,232G/A——
rs711842211:3,933,295T/Cintron variant—
rs1229074711:3,939,650T/Cupstream gene variant—
rs11374614911:3,939,763C/A——
rs14679272611:3,972,232G/Aintron variant—
rs90610152211:3,988,766T/G—likely benign
rs20206984911:3,988,767G/C—likely benign
rs128708996911:3,988,773C/T—likely benign
rs20052898511:3,988,777C/T—conflicting classifications of pathogenicity
rs249742175411:3,988,785T/A—uncertain significance
rs159060865911:3,988,788G/A—uncertain significance
rs20124574611:3,988,791G/A—uncertain significance
rs76475203111:3,988,802C/A—uncertain significance
rs55390943111:3,988,819G/A—likely benign
rs20216075511:3,988,824A/G—conflicting classifications of pathogenicity
rs20034556711:3,988,834C/T—likely benign
rs20117713311:3,988,837C/T—likely benign
rs19979923111:3,988,838G/A—uncertain significance
rs121684288611:3,988,840G/A—likely benign
rs131728642011:3,988,841G/A—uncertain significance
rs20019450011:3,988,843A/G—likely benign
rs20106139611:3,988,847C/T—uncertain significance
rs37673439411:3,988,848G/A—uncertain significance
rs39751543611:3,988,858C/Amissense variantpathogenic
rs249742255611:3,988,860A/G—uncertain significance
rs105751950611:3,988,863T/Cmissense variantpathogenic
rs213573648711:3,988,869A/G—uncertain significance
rs74954081211:3,988,870C/T—likely benign
rs14612607111:3,988,876T/C—benign
rs102927819511:3,988,880A/G—uncertain significance
rs74827795111:3,988,881A/Cmissense variantpathogenic
rs77225592411:3,988,882T/C—likely benign
rs249742280711:3,988,883G/T—uncertain significance
rs145405458811:3,988,888T/C—likely benign
rs249742294911:3,988,892G/A—uncertain significance
rs39751467511:3,988,893A/Gmissense variantpathogenic
rs209335225611:3,988,894T/A—likely pathogenic
rs213573664811:3,988,904A/G—pathogenic
rs95464817111:3,988,912G/C—uncertain significance
rs249742318711:3,988,914T/C—likely pathogenic
rs143984162211:3,988,917G/T—uncertain significance
rs134660412011:3,988,923C/T—likely benign
rs117433180111:3,988,924C/T—likely benign
rs20178005811:3,988,925A/G—likely benign
rs75763553811:3,988,931C/T—likely benign
rs5815184811:3,988,991C/A—benign
rs7342755611:3,989,125G/C—benign
rs1083539911:3,989,182G/A—benign
rs711384511:3,989,226C/G—benign
rs1103047211:3,999,335A/Gupstream gene variant—
rs76339598611:4,012,127T/C—uncertain significance

Showing 100 of 648 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.