TAPBP

TAP binding protein

Summary

This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants245 total

rsidPosition (GRCh37)AllelesClassClinVar
rs12927954976:33,269,539A/C—uncertain significance
rs3714643066:33,269,552G/T—likely benign
rs17687598186:33,271,753G/A—likely benign
rs13829738876:33,271,758G/A—likely benign
rs737415546:33,271,780T/C—benign
rs7717099816:33,271,888G/T—likely benign
rs25367126466:33,271,894C/G—likely benign
rs9663035956:33,271,897A/G—likely benign
rs7653832346:33,271,908C/T—uncertain significance
rs12629543136:33,271,913C/G—uncertain significance
rs1481373456:33,271,921C/T—benign
rs25367131196:33,271,926A/G—uncertain significance
rs17687801666:33,271,937A/G—uncertain significance
rs13825726746:33,271,947C/T—uncertain significance
rs1447065396:33,271,953A/G—benign
rs21509598696:33,271,957A/G—likely benign
rs341320526:33,271,966G/A—benign
rs1385169826:33,271,971C/T—likely benign
rs2006855006:33,271,977G/A—likely benign
rs25367137916:33,271,978G/A—likely benign
rs17687853716:33,271,991A/T—uncertain significance
rs1882712186:33,272,000A/T—uncertain significance
rs412667336:33,272,054G/A—benign
rs14745453126:33,272,063C/T—likely benign
rs25367145836:33,272,066G/A—likely benign
rs9711045306:33,272,074C/T—uncertain significance
rs9812037526:33,272,081C/T—likely benign
rs3723548656:33,272,088G/T—uncertain significance
rs3756645116:33,272,098C/T—uncertain significance
rs3699753436:33,272,099G/A—likely benign
rs7755001616:33,272,101T/G—uncertain significance
rs7631987386:33,272,103C/T—uncertain significance
rs5454991196:33,272,104G/A—uncertain significance
rs7688595586:33,272,108C/T—likely benign
rs5767391196:33,272,109G/A—uncertain significance
rs2012636366:33,272,112G/A—uncertain significance
rs7679480226:33,272,114A/G—likely benign
rs9145273176:33,272,120G/A—likely benign
rs7509406226:33,272,136C/T—uncertain significance
rs7557610816:33,272,141G/A—likely benign
rs17687974756:33,272,146A/G—uncertain significance
rs1459337876:33,272,149G/C—uncertain significance
rs3773666746:33,272,156A/G—likely benign
rs10075114716:33,272,179G/A—uncertain significance
rs7801163096:33,272,180C/T—likely benign
rs1396660096:33,272,181G/A—uncertain significance
rs7746314526:33,272,182G/C—uncertain significance
rs12816209486:33,272,203T/G—uncertain significance
rs3762101176:33,272,215C/T—uncertain significance
rs7669349096:33,272,216G/A—likely benign
rs17688055786:33,272,226C/T—uncertain significance
rs5290859346:33,272,227G/A—uncertain significance
rs2000980016:33,272,232G/A—likely benign
rs11780823136:33,272,234C/T—likely benign
rs3743084806:33,272,235G/A—uncertain significance
rs10068359926:33,272,238A/G—uncertain significance
rs3758699096:33,272,255G/A—likely benign
rs2010740906:33,272,258C/T—likely benign
rs7810980676:33,272,268C/T—uncertain significance
rs7493981916:33,272,270G/A—likely benign
rs12709920676:33,272,271C/T—uncertain significance
rs10226115176:33,272,283C/T—uncertain significance
rs115499196:33,272,286C/T—likely benign
rs7723498736:33,272,287G/A—uncertain significance
rs25367176646:33,272,295C/G—uncertain significance
rs5620487266:33,272,309G/C—likely benign
rs2002809986:33,272,310C/T—uncertain significance
rs617395906:33,272,312C/T—benign
rs14501388006:33,272,315A/G—likely benign
rs13388918036:33,272,335C/T—uncertain significance
rs7636829476:33,272,336A/G—likely benign
rs5661531366:33,272,338G/A—likely benign
rs12033675016:33,272,349T/C—uncertain significance
rs7788703016:33,272,351C/T—likely benign
rs7674861366:33,272,352G/A—uncertain significance
rs7503937866:33,272,356G/A—uncertain significance
rs7724731926:33,272,358G/T—uncertain significance
rs1997109086:33,272,371C/T—uncertain significance
rs14681823076:33,272,372G/A—likely benign
rs1852984536:33,272,376C/T—uncertain significance
rs7474172546:33,272,377G/A—conflicting classifications of pathogenicity
rs13261007386:33,272,398G/A—likely benign
rs5557965686:33,272,408G/C—likely benign
rs14629743536:33,272,412G/T—uncertain significance
rs25367194006:33,272,414T/G—uncertain significance
rs2001196876:33,272,427G/A—likely benign
rs5679914526:33,272,430C/T—likely benign
rs14794151456:33,272,431G/A—likely benign
rs7804247936:33,272,755C/T—likely benign
rs13506250216:33,272,765C/T—uncertain significance
rs10466775666:33,272,775C/T—uncertain significance
rs17688696036:33,272,784G/A—likely benign
rs21509614906:33,272,790C/A—uncertain significance
rs17688710556:33,272,795C/T—uncertain significance
rs1455711326:33,272,814G/A—uncertain significance
rs7614566126:33,272,815T/C—uncertain significance
rs25367242886:33,272,830G/A—likely benign
rs12480826296:33,272,835C/T—uncertain significance
rs3706195026:33,272,838C/T—uncertain significance
rs20718886:33,272,855G/Cmissense variantbenign

Showing 100 of 245 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.