ABCC6

ATP binding cassette subfamily C member 6

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,183 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5946146816:16,243,952C/T—likely benign
rs390240116:16,243,973C/T—benign
rs6375087416:16,244,001C/Tmissense variantpathogenic
rs136703578716:16,244,012G/A—uncertain significance
rs204634579116:16,244,013C/T—uncertain significance
rs215220668516:16,244,015A/G—uncertain significance
rs75625017816:16,244,018C/G—uncertain significance
rs204634595516:16,244,020G/A—likely benign
rs77895632716:16,244,025A/G—uncertain significance
rs74576139316:16,244,026C/G—likely benign
rs14186009616:16,244,029G/A—benign
rs76836551416:16,244,044C/G—likely benign
rs77625568216:16,244,053C/T—likely benign
rs6375013516:16,244,054G/Amissense variantuncertain significance
rs143430917816:16,244,056G/T—uncertain significance
rs91509393616:16,244,057C/G—uncertain significance
rs6375127916:16,244,061C/Tmissense variantuncertain significance
rs54879870516:16,244,062G/A—likely benign
rs7266428016:16,244,068——pathogenic
rs131601219416:16,244,068T/C—likely benign
rs251094551516:16,244,072A/C—uncertain significance
rs11409907716:16,244,077C/T—benign
rs159657859916:16,244,078C/T—uncertain significance
rs7265375116:16,244,082T/Astop gainedpathogenic
rs143400674316:16,244,085C/T—uncertain significance
rs136821158316:16,244,100T/G—uncertain significance
rs5819036116:16,244,103G/T—likely benign
rs128639582316:16,244,105G/T—likely benign
rs75141816116:16,244,115G/A—likely benign
rs75474883416:16,244,118A/C—likely benign
rs21209716:16,244,129C/T—benign
rs21209816:16,244,174T/C—benign
rs77747334516:16,244,415G/C—likely benign
rs74880439216:16,244,418C/T—likely benign
rs7266421516:16,244,424G/Aregulatory region variantlikely benign
rs77258577216:16,244,426G/A—likely benign
rs136986087016:16,244,428G/T—likely benign
rs77593127616:16,244,429C/A—uncertain significance
rs100699488516:16,244,434C/A—likely pathogenic
rs76109800616:16,244,435C/T—uncertain significance
rs77689166516:16,244,436G/A—uncertain significance
rs77429658916:16,244,447A/G—uncertain significance
rs75940708016:16,244,451C/T—uncertain significance
rs204635813516:16,244,455G/A—likely benign
rs5728861816:16,244,456C/T—uncertain significance
rs103087214716:16,244,457G/A—uncertain significance
rs6375076316:16,244,461G/Asynonymous variantuncertain significance
rs75349773916:16,244,462C/T—uncertain significance
rs7254752416:16,244,463G/Amissense variantpathogenic
rs37171018016:16,244,464G/A—likely benign
rs37695554416:16,244,467G/C—likely benign
rs159657980216:16,244,471A/G—uncertain significance
rs133366266616:16,244,497C/T—likely pathogenic
rs55965360716:16,244,506G/A—likely benign
rs146226923016:16,244,514C/T—uncertain significance
rs7266423816:16,244,520——pathogenic
rs76987938616:16,244,530C/T—likely benign
rs7266428916:16,244,533G/Asynonymous variantuncertain significance
rs76301236616:16,244,536A/G—likely benign
rs53141866816:16,244,544C/T—uncertain significance
rs76636212016:16,244,545G/A—likely benign
rs75691075716:16,244,559C/T—conflicting classifications of pathogenicity
rs37621046216:16,244,560G/A—likely benign
rs6375029516:16,244,567A/Gmissense variantuncertain significance
rs75796090416:16,244,569G/A—likely benign
rs57167851216:16,244,580T/G—uncertain significance
rs5866870316:16,244,584C/Tsynonymous variantlikely benign
rs6375126216:16,244,585C/Tmissense variantuncertain significance
rs5958865816:16,244,586G/A—uncertain significance
rs77340762416:16,244,587G/C—likely benign
rs156746058516:16,244,589G/C—uncertain significance
rs251094655716:16,244,590A/G—likely benign
rs74941584616:16,244,593G/A—likely benign
rs38790635216:16,244,594——pathogenic
rs77531935116:16,244,597C/T—uncertain significance
rs76061151116:16,244,598G/A—likely pathogenic
rs251094658616:16,244,602C/T—likely benign
rs251094659016:16,244,604G/A—likely benign
rs101238941616:16,244,611G/A—likely benign
rs77655743816:16,244,612A/T—uncertain significance
rs14951046516:16,244,620C/G—conflicting classifications of pathogenicity
rs38790685916:16,244,622G/Tmissense variantpathogenic
rs94723059316:16,244,625C/T—pathogenic
rs20048526716:16,244,628C/T—uncertain significance
rs6375070016:16,244,629G/Asplice region variantuncertain significance
rs155550674016:16,244,631T/G—pathogenic
rs135533241416:16,244,632G/A—uncertain significance
rs251094662516:16,244,635A/G—likely benign
rs53660385816:16,244,637C/T—likely benign
rs75595107616:16,244,640T/C—uncertain significance
rs78154200116:16,244,647A/G—likely benign
rs141975699516:16,244,649T/A—likely benign
rs1107529916:16,246,164T/Gintron variant—
rs75407335116:16,248,474G/A—likely benign
rs5876058116:16,248,476T/C—benign
rs5668806916:16,248,477G/A—likely benign
rs215221181716:16,248,479C/T—uncertain significance
rs6375124116:16,248,495C/Tmissense variantpathogenic
rs19977098316:16,248,496G/A—uncertain significance
rs20208098416:16,248,500C/T—likely benign

Showing 100 of 1,183 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.