SORCS1

sortilin related VPS10 domain containing receptor 1

Summary

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants92 total

rsidPosition (GRCh37)AllelesClassClinVar
rs184474893310:108,338,960G/A—likely pathogenic
rs19392099110:108,339,001G/A—uncertain significance
rs76303202010:108,339,134A/G—uncertain significance
rs13913297410:108,339,146C/T—likely benign
rs56932409010:108,357,186G/A—uncertain significance
rs254728647810:108,357,189T/C—uncertain significance
rs133085875710:108,366,928T/G—uncertain significance
rs145545244910:108,366,970T/C—uncertain significance
rs86588839510:108,366,979A/G—uncertain significance
rs37055675810:108,367,022C/T—uncertain significance
rs75427793310:108,377,991T/C—uncertain significance
rs74668933310:108,378,004T/C—uncertain significance
rs74796852910:108,380,248C/T—uncertain significance
rs13929793210:108,388,979G/A—likely benign
rs76792667210:108,389,025C/T—uncertain significance
rs20188996310:108,389,050C/T—uncertain significance
rs77500266010:108,389,096C/T—likely benign
rs14857263310:108,389,133C/T—uncertain significance
rs123301611810:108,412,160G/C—uncertain significance
rs254744391110:108,412,171T/C—uncertain significance
rs13920772910:108,412,218C/T—benign
rs92248549710:108,412,223G/A—uncertain significance
rs6173422610:108,412,249G/T—benign
rs37067988110:108,412,274C/T—uncertain significance
rs147466996810:108,412,310A/G—uncertain significance
rs76161185010:108,431,062T/C—uncertain significance
rs14391402310:108,432,670G/A—uncertain significance
rs78035057210:108,434,885C/T—uncertain significance
rs20167449510:108,437,080C/T—uncertain significance
rs254751690010:108,437,096T/C—uncertain significance
rs55898038010:108,437,105T/C—uncertain significance
rs18076601110:108,440,498G/Aintron variant—
rs7894585910:108,447,956G/A—benign
rs131511550210:108,447,960T/C—uncertain significance
rs14051694210:108,447,984G/T—uncertain significance
rs54608446210:108,448,005C/T—uncertain significance
rs14010566410:108,459,002A/G—likely benign
rs14328082710:108,459,006C/A—uncertain significance
rs14480098610:108,459,034C/T—uncertain significance
rs254758159610:108,459,066A/G—uncertain significance
rs254758174910:108,459,084T/C—uncertain significance
rs14024877910:108,466,306G/A—benign
rs133560720910:108,466,343G/T—uncertain significance
rs36933437010:108,466,377G/C—uncertain significance
rs37240490810:108,466,392G/A—likely benign
rs76998263210:108,468,998G/A—uncertain significance
rs185477167810:108,469,003T/C—uncertain significance
rs119975536810:108,469,022G/C—uncertain significance
rs185477658410:108,469,068G/C—uncertain significance
rs18293866410:108,475,636G/Aintron variant—
rs78027465910:108,489,842G/T—uncertain significance
rs14919334510:108,489,848T/C—benign
rs18323608410:108,489,876A/G—benign
rs248615210:108,498,078A/T——
rs13954730110:108,508,446C/Aintron variant—
rs19961171310:108,536,372G/T—likely benign
rs120496546610:108,536,428T/G—uncertain significance
rs133661910:108,581,825C/Tintron variant—
rs789553110:108,582,959G/Aintron variant—
rs139952048110:108,589,346T/C—uncertain significance
rs194845319610:108,589,375G/T—uncertain significance
rs791546210:108,663,389C/Aintron variant—
rs6086879310:108,676,335C/T——
rs11817460110:108,701,067T/Cintron variant—
rs491827010:108,708,681T/Cintron variant—
rs290071710:108,731,687T/Cdownstream gene variant—
rs491827510:108,732,343G/Cregulatory region variant—
rs1727798610:108,758,726C/Tintron variant—
rs658477710:108,764,014C/Tintron variant—
rs1088439910:108,772,935G/Aintron variant—
rs1119317010:108,781,532C/Aintron variant—
rs491828010:108,790,758C/Tintron variant—
rs1088440210:108,792,942G/Aregulatory region variant—
rs707809810:108,793,788T/A——
rs95080910:108,795,375A/Gintron variant—
rs790769010:108,862,127A/Gintron variant—
rs60188310:108,914,445C/T——
rs60087910:108,923,118C/Tregulatory region variant—
rs156512536410:108,923,728C/G—uncertain significance
rs77601556210:108,923,737T/C—uncertain significance
rs20180432810:108,923,779C/G—uncertain significance
rs75133971610:108,923,798T/C—uncertain significance
rs143237454110:108,923,820C/T—uncertain significance
rs76490023810:108,923,863C/A—uncertain significance
rs14468839610:108,923,984C/A—uncertain significance
rs37165855710:108,924,082G/A—uncertain significance
rs123576059310:108,924,107C/T—uncertain significance
rs126344936810:108,924,124C/A—uncertain significance
rs254868414910:108,924,203C/A—uncertain significance
rs196996109010:108,924,250G/A—uncertain significance
rs144261755910:108,924,256G/T—uncertain significance
rs790771310:108,929,333G/Aintergenic variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.