ERLIN1

ER lipid raft associated 1

Summary

The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]

Known Variants126 total

rsidPosition (GRCh37)AllelesClassClinVar
rs213408789810:101,910,637T/C—uncertain significance
rs213408790810:101,910,641A/G—uncertain significance
rs4129052210:101,911,271T/G3 prime UTR variant—
rs380252810:101,911,675C/T—likely benign
rs36972573610:101,911,898C/T—uncertain significance
rs249274706810:101,911,899T/G—uncertain significance
rs37360383710:101,911,909T/C—likely benign
rs37329258510:101,911,917C/T—uncertain significance
rs19992834010:101,911,920T/C—uncertain significance
rs37702541610:101,911,969T/C—likely benign
rs126692943810:101,912,028T/C—uncertain significance
rs75677294710:101,912,042T/C—uncertain significance
rs75565957310:101,912,057G/T—uncertain significance
rs77969561410:101,912,061C/A—uncertain significance
rs286295410:101,912,064C/T—benign
rs77424308110:101,912,079T/G—uncertain significance
rs74798515010:101,912,095C/T—likely benign
rs140857910:101,912,194C/T—benign
rs1224239810:101,912,266C/T—likely benign
rs11606625610:101,914,426C/T—likely benign
rs4129052410:101,914,544T/C—likely benign
rs77782073710:101,914,609C/T—likely benign
rs74705092110:101,914,629G/A—likely benign
rs77117260610:101,914,632A/G—likely benign
rs124427764210:101,914,643C/T—uncertain significance
rs75978644610:101,914,653T/C—conflicting classifications of pathogenicity
rs77565464510:101,914,668C/T—likely benign
rs76339227910:101,914,669G/A—uncertain significance
rs87665741310:101,914,679G/Astop gaineduncertain significance
rs14349533310:101,914,680G/T—conflicting classifications of pathogenicity
rs75217542410:101,914,682C/A—uncertain significance
rs249276734510:101,914,705T/C—likely benign
rs1276981810:101,915,629T/C—benign
rs249277690110:101,915,884C/T—likely benign
rs137186395610:101,915,892C/G—likely benign
rs117330606410:101,915,897T/C—uncertain significance
rs54396075210:101,915,906G/C—uncertain significance
rs78138303410:101,915,919C/T—uncertain significance
rs96733424710:101,915,931T/G—uncertain significance
rs37411037310:101,915,934T/A—uncertain significance
rs94365520010:101,915,958C/T—uncertain significance
rs77470138510:101,915,959G/A—uncertain significance
rs76226674210:101,915,969C/G—likely benign
rs14860129610:101,915,978A/G—likely benign
rs36797878210:101,915,979A/G—uncertain significance
rs74623126510:101,918,261G/A——
rs36826018010:101,923,744C/T—likely benign
rs136364577510:101,923,763A/G—uncertain significance
rs158952563110:101,923,806C/T—uncertain significance
rs89696356410:101,923,807C/G—uncertain significance
rs14222277810:101,923,828A/G—likely benign
rs97829116010:101,923,872A/G—likely benign
rs1088345110:101,924,418T/Cintron variant—
rs708671010:101,927,047A/G—benign
rs116169824310:101,927,104C/T—uncertain significance
rs1119040810:101,927,468G/A—benign
rs1159523810:101,930,409A/Gintron variant—
rs147441760310:101,933,952G/A—likely benign
rs148114954010:101,933,957G/T—likely benign
rs134730013210:101,933,973T/C—uncertain significance
rs142942365610:101,933,982G/A—uncertain significance
rs93858209710:101,933,989G/T—likely benign
rs184416674210:101,933,998G/C—uncertain significance
rs121299500610:101,934,018T/C—uncertain significance
rs76747032410:101,934,019C/G—likely benign
rs249289128210:101,934,051C/G—likely benign
rs3561479210:101,934,235C/T—benign
rs37168430810:101,935,682A/G—likely benign
rs124007750110:101,935,686G/C—likely benign
rs249290172310:101,935,687A/G—likely benign
rs37736375410:101,935,698T/A—uncertain significance
rs36955102010:101,935,760A/G—likely benign
rs15079690610:101,935,763G/A—likely benign
rs76633456510:101,935,815A/G—uncertain significance
rs37392647410:101,935,817G/A—conflicting classifications of pathogenicity
rs158954831810:101,935,834G/A—uncertain significance
rs213416946810:101,937,910T/C—uncertain significance
rs184442089210:101,937,913A/G—pathogenic
rs13916802010:101,937,918T/C—likely benign
rs125588885110:101,937,921T/C—uncertain significance
rs77996334910:101,937,925C/A—uncertain significance
rs249291807210:101,937,956A/G—likely benign
rs76429681810:101,937,968A/G—likely benign
rs375070710:101,937,969A/G—benign
rs14122078110:101,937,970A/C—benign
rs375070810:101,938,021G/A—benign
rs7415300010:101,938,075G/A—likely benign
rs1119041410:101,938,134T/A—benign
rs491943010:101,938,714A/G—benign
rs1711271410:101,938,872T/C—benign
rs140547776510:101,938,938T/C—likely benign
rs249292563010:101,938,955T/G—uncertain significance
rs122293123110:101,938,963T/A—likely benign
rs249292585410:101,938,975A/G—likely benign
rs249292603210:101,938,993T/C—likely benign
rs249292617910:101,939,002T/C—likely benign
rs249292623510:101,939,005C/T—pathogenic
rs142103830610:101,939,008G/C—likely benign
rs76981123710:101,943,502G/C—likely benign
rs20120891110:101,943,510C/T—conflicting classifications of pathogenicity

Showing 100 of 126 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.