TBCD

tubulin folding cofactor D

Summary

Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]

Known Variants1,086 total

rsidPosition (GRCh37)AllelesClassClinVar
rs105653417:80,708,601C/Tsynonymous variant—
rs1245037217:80,709,830C/T—benign
rs105415699817:80,710,064G/T—uncertain significance
rs137097406117:80,710,074C/T—uncertain significance
rs122994962317:80,710,076C/T—likely benign
rs74948624917:80,710,078G/C—likely benign
rs251034795517:80,710,079A/T—uncertain significance
rs101057524317:80,710,085G/T—pathogenic
rs121129924817:80,710,087A/G—likely benign
rs76887560517:80,710,090G/A—likely benign
rs214370082717:80,710,096G/A—likely benign
rs1155006217:80,710,097T/G—benign
rs53317114717:80,710,098G/A—conflicting classifications of pathogenicity
rs1155006717:80,710,099C/T—benign
rs103471640617:80,710,105C/G—likely benign
rs156807996617:80,710,111G/A—likely benign
rs251034866317:80,710,117G/A—likely benign
rs251034870117:80,710,120G/A—likely benign
rs100301675017:80,710,123C/G—uncertain significance
rs121342227017:80,710,126G/A—likely benign
rs134377260217:80,710,129A/T—likely benign
rs76376831917:80,710,130C/T—likely benign
rs99060738417:80,710,135C/T—likely benign
rs123967665517:80,710,141C/A—likely benign
rs91650310017:80,710,151G/A—uncertain significance
rs138856982117:80,710,153A/G—likely benign
rs116946482017:80,710,161G/A—uncertain significance
rs57659609617:80,710,168C/T—likely benign
rs251034991317:80,710,177C/G—likely benign
rs75036603817:80,710,179G/A—uncertain significance
rs75599231517:80,710,180G/A—likely benign
rs54396288917:80,710,184C/G—likely benign
rs75391768917:80,710,186G/A—likely benign
rs144344268517:80,710,187C/T—likely benign
rs251035007417:80,710,189G/C—likely benign
rs102825326217:80,710,192C/T—likely benign
rs118950488317:80,710,196C/A—uncertain significance
rs139464962417:80,710,200G/C—uncertain significance
rs159835144417:80,710,204G/A—likely benign
rs251035038817:80,710,207G/T—likely benign
rs95536016217:80,710,208C/T—uncertain significance
rs56203378017:80,710,210C/T—likely benign
rs143513109817:80,710,213C/A—likely benign
rs92434993117:80,710,215G/C—uncertain significance
rs93357205617:80,710,229G/T—pathogenic
rs251035055917:80,710,231G/A—likely benign
rs92927317817:80,710,237C/T—likely benign
rs91197127817:80,710,245G/A—uncertain significance
rs94486256117:80,710,249C/T—likely benign
rs121987687917:80,710,260G/A—likely benign
rs146632294517:80,710,262G/C—likely benign
rs214370332717:80,710,264G/T—likely benign
rs251035101117:80,710,266C/T—likely benign
rs13955002317:80,710,267G/A—benign
rs125261417617:80,710,271C/T—likely benign
rs143159562817:80,710,272G/A—likely benign
rs245121717:80,710,278G/C—benign
rs76138945517:80,714,023T/C—likely benign
rs133175240417:80,714,024G/A—likely benign
rs77539548217:80,714,028T/C—likely benign
rs251040334917:80,714,029A/G—likely benign
rs75017408617:80,714,042A/G—likely benign
rs75391628617:80,714,051C/T—likely benign
rs251040372917:80,714,066G/A—likely benign
rs204739152917:80,714,070C/T—uncertain significance
rs251040375917:80,714,075G/C—likely benign
rs251040381817:80,714,081C/T—likely benign
rs77878816317:80,714,083C/T—uncertain significance
rs75297254717:80,714,084G/A—likely benign
rs140960087417:80,714,086A/G—pathogenic
rs53447036917:80,714,099T/C—likely benign
rs135269809017:80,714,107G/A—likely benign
rs204739288717:80,714,109T/C—likely benign
rs115798962017:80,714,110G/A—likely benign
rs251040409017:80,714,111A/G—likely benign
rs720990917:80,721,648C/G—benign
rs7515463917:80,721,696G/A—benign
rs204790082817:80,721,821T/C—likely benign
rs37138531417:80,721,822T/G—likely benign
rs214395296117:80,721,825C/T—likely benign
rs76044325117:80,721,827A/G—likely benign
rs251051569717:80,721,836C/T—likely benign
rs251051572117:80,721,837C/G—likely benign
rs251051586917:80,721,848G/A—uncertain significance
rs156809803917:80,721,855T/C—likely benign
rs53556572117:80,721,900G/A—uncertain significance
rs36913515117:80,721,903C/T—uncertain significance
rs135447855417:80,721,911T/C—likely benign
rs74707058617:80,721,925A/G—uncertain significance
rs124996839217:80,721,926C/T—likely benign
rs251051655717:80,721,930A/G—uncertain significance
rs92031247317:80,721,935C/G—likely benign
rs204790456617:80,721,949C/G—likely benign
rs251051699017:80,721,957T/C—likely benign
rs251054774817:80,724,125C/T—likely benign
rs75183732717:80,724,133T/C—likely benign
rs204801060717:80,724,135T/C—likely benign
rs75736402317:80,724,138G/A—likely benign
rs75071776717:80,724,146C/T—pathogenic
rs75790519117:80,724,157A/G—likely benign

Showing 100 of 1,086 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.