NPC1

NPC intracellular cholesterol transporter 1

Summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

Known Variants1,732 total

rsidPosition (GRCh37)AllelesClassClinVar
rs17743018:21,086,125C/Tdownstream gene variant—
rs178880818:21,090,023A/T——
rs809450918:21,091,212A/G——
rs136708318:21,100,240C/Gsynonymous variant—
rs178881918:21,100,504G/Aintron variant—
rs5744042418:21,108,614G/C——
rs122779786318:21,111,448G/A—uncertain significance
rs88605366218:21,111,666T/C—uncertain significance
rs20127752018:21,111,672C/A—uncertain significance
rs88605366318:21,111,817C/T—uncertain significance
rs88605366418:21,111,832A/T—uncertain significance
rs132636571918:21,111,838T/G—uncertain significance
rs205852261218:21,111,839G/A—uncertain significance
rs53505974418:21,111,964G/A—uncertain significance
rs53488858918:21,111,975G/T—uncertain significance
rs808646318:21,112,002A/G—likely benign
rs205852779318:21,112,005G/A—uncertain significance
rs205852892818:21,112,037A/C—uncertain significance
rs18898015518:21,112,057A/C—uncertain significance
rs57300955218:21,112,072C/T—uncertain significance
rs13972039018:21,112,098C/T—likely benign
rs78069137118:21,112,170A/T—uncertain significance
rs74532844418:21,112,173T/C—uncertain significance
rs76946576318:21,112,175T/C—likely benign
rs251116595118:21,112,181C/G—likely benign
rs15130596318:21,112,182C/T—uncertain significance
rs54408959718:21,112,183G/A—uncertain significance
rs37403231818:21,112,185T/C—uncertain significance
rs96968089718:21,112,186C/T—uncertain significance
rs37579772818:21,112,187G/A—conflicting classifications of pathogenicity
rs56338581018:21,112,188C/T—uncertain significance
rs20026426718:21,112,189G/A—uncertain significance
rs251116615918:21,112,190C/T—likely benign
rs77344891518:21,112,191T/G—uncertain significance
rs14052700618:21,112,192C/G—uncertain significance
rs128030036118:21,112,199T/C—likely benign
rs98821544218:21,112,201T/C—uncertain significance
rs214532559918:21,112,202G/A—likely benign
rs251116633118:21,112,205T/G—likely benign
rs180508418:21,112,206C/T—uncertain significance
rs75125179018:21,112,209T/A—uncertain significance
rs121021389918:21,112,211T/C—likely benign
rs126919392418:21,112,214A/G—likely benign
rs251116652718:21,112,216T/G—uncertain significance
rs76740038418:21,112,230G/A—uncertain significance
rs251116675718:21,112,235A/G—likely benign
rs75559750318:21,112,240C/T—uncertain significance
rs77962915418:21,112,241T/C—likely benign
rs98614660418:21,112,243A/T—uncertain significance
rs251116683518:21,112,244T/C—likely benign
rs205853778818:21,112,247C/T—likely benign
rs74896523518:21,112,251A/G—uncertain significance
rs75452009718:21,112,253G/A—likely benign
rs214532643018:21,112,255G/C—likely benign
rs77934971018:21,112,260A/G—likely benign
rs74841240818:21,112,261G/C—likely benign
rs14427614618:21,112,320C/A—likely benign
rs7339210818:21,113,116C/A—likely benign
rs11257089518:21,113,211A/C—likely benign
rs251034418:21,113,285T/Cdownstream gene variantbenign
rs76591835418:21,113,300T/G—likely benign
rs251117575218:21,113,305A/G—likely benign
rs75322916918:21,113,306T/C—likely benign
rs122741090418:21,113,307G/A—likely benign
rs75468260918:21,113,308A/G—likely benign
rs214533524318:21,113,309G/A—likely benign
rs214533527018:21,113,315T/C—uncertain significance
rs120825251318:21,113,316T/G—conflicting classifications of pathogenicity
rs155563157118:21,113,318C/G—likely pathogenic
rs75881472018:21,113,323G/A—likely benign
rs141592126118:21,113,328T/C—conflicting classifications of pathogenicity
rs144931802418:21,113,329G/A—likely benign
rs120610604118:21,113,338A/G—likely benign
rs106479400918:21,113,338——pathogenic
rs162196218:21,113,341G/A—conflicting classifications of pathogenicity
rs251117617918:21,113,342A/G—likely pathogenic
rs77150187918:21,113,349T/C—uncertain significance
rs74589228618:21,113,355C/T—likely pathogenic
rs3462401818:21,113,356G/A—conflicting classifications of pathogenicity
rs214533568318:21,113,368C/A—likely benign
rs214533569818:21,113,370G/A—likely benign
rs214533571018:21,113,372A/G—uncertain significance
rs116132109418:21,113,379T/C—uncertain significance
rs137406416818:21,113,380G/A—likely benign
rs214533575518:21,113,383C/T—likely benign
rs37415066218:21,113,384A/G—uncertain significance
rs136377652318:21,113,392C/T—likely benign
rs86713944318:21,113,393C/A—uncertain significance
rs77292473118:21,113,394T/C—uncertain significance
rs88604374418:21,113,402A/Cmissense variantpathogenic
rs205857230118:21,113,403A/G—pathogenic
rs144477013118:21,113,404T/A—likely benign
rs36865860018:21,113,406T/C—uncertain significance
rs205857249018:21,113,407C/T—likely benign
rs126631513518:21,113,411A/G—uncertain significance
rs251117683018:21,113,416T/C—likely benign
rs146489136418:21,113,419A/G—likely benign
rs251117686818:21,113,420G/C—uncertain significance
rs205857277018:21,113,422T/C—likely benign
rs251117692718:21,113,425G/A—likely benign

Showing 100 of 1,732 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.