MCM8

minichromosome maintenance 8 homologous recombination repair factor

Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

Known Variants90 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1722025120:5,932,650T/C—benign
rs135696323420:5,932,687G/T—uncertain significance
rs90630691020:5,932,750A/C—uncertain significance
rs14520096020:5,932,789C/G—uncertain significance
rs57709800620:5,932,795G/A—uncertain significance
rs251438809420:5,933,090C/T—uncertain significance
rs36786213620:5,933,094C/T—uncertain significance
rs208885747120:5,933,096A/G—uncertain significance
rs88897102920:5,933,111T/G—uncertain significance
rs75229825820:5,935,261C/T—likely benign
rs7520898120:5,935,292G/C—benign
rs77134744820:5,935,319A/G—uncertain significance
rs14616286820:5,935,325T/G—benign
rs23611420:5,935,385T/A——
rs78159782520:5,935,823A/G—uncertain significance
rs14513395920:5,935,825A/G—likely benign
rs11692692120:5,935,832A/G—benign
rs60623134320:5,935,857C/Gmissense variantpathogenic
rs5848718320:5,935,875G/A—benign
rs14004481420:5,935,893A/C—likely pathogenic
rs76669544320:5,937,817C/G—uncertain significance
rs1699159120:5,937,833A/G—benign
rs75780171820:5,937,839G/C—uncertain significance
rs208900908020:5,937,860C/A—uncertain significance
rs74914515220:5,939,220A/G—uncertain significance
rs37381001020:5,939,263G/A—uncertain significance
rs56433378720:5,939,265G/T—uncertain significance
rs75000261820:5,939,268A/G—uncertain significance
rs45141720:5,941,999C/Aupstream gene variant—
rs45442220:5,943,693C/G——
rs251442865420:5,943,918A/G—likely pathogenic
rs145760214920:5,943,932G/A—uncertain significance
rs14649031520:5,943,962C/T—likely benign
rs3502899020:5,943,974C/T—benign
rs20183261020:5,944,012G/A—likely benign
rs20065337520:5,948,123G/A—uncertain significance
rs20111524420:5,948,131C/T—pathogenic
rs14976742320:5,948,160T/C—benign
rs145312316520:5,948,161C/T—uncertain significance
rs1699161520:5,948,227G/Amissense variant—
rs75754600920:5,948,481C/T—conflicting classifications of pathogenicity
rs3518067420:5,948,540T/C—benign
rs14433068820:5,948,544A/C—uncertain significance
rs124171650620:5,948,572A/G—uncertain significance
rs481587920:5,949,534G/Adownstream gene variant—
rs7649834420:5,951,451T/Cintron variant—
rs36942416520:5,953,766A/G—uncertain significance
rs37331994620:5,953,777A/G—uncertain significance
rs251446348520:5,953,787A/C—uncertain significance
rs11135849120:5,956,389G/Tintron variant—
rs53109922120:5,958,530C/A—likely pathogenic
rs103787554520:5,958,555G/A—uncertain significance
rs86932075320:5,958,596——pathogenic
rs251448102420:5,958,637C/T—uncertain significance
rs13863404820:5,958,888C/Tintron variant—
rs14856336320:5,959,697G/Aintron variant—
rs78162371620:5,963,682A/G—uncertain significance
rs6175202920:5,963,747A/G—uncertain significance
rs76974174520:5,963,765G/C—uncertain significance
rs14295926920:5,964,219G/Aintron variant—
rs251450024620:5,965,425A/G—likely pathogenic
rs75341044920:5,965,431G/A—uncertain significance
rs95243137020:5,965,435G/A—uncertain significance
rs6175203020:5,965,465T/C—uncertain significance
rs208969894020:5,965,563A/G—uncertain significance
rs37226955520:5,965,583T/A—uncertain significance
rs77733683920:5,965,633C/T—uncertain significance
rs77515612520:5,965,647G/C—likely pathogenic
rs18415281620:5,965,818G/Aintron variant—
rs13876118720:5,966,567G/Asplice region variantpathogenic
rs77825317720:5,966,569T/G—uncertain significance
rs75152960320:5,966,634C/T—uncertain significance
rs20191131820:5,966,644T/C—uncertain significance
rs251450417520:5,966,664G/C—uncertain significance
rs14077334520:5,966,673C/T—pathogenic
rs14943361320:5,966,674G/A—benign
rs78045822520:5,966,736A/G—uncertain significance
rs6175476320:5,966,763G/A—benign
rs20053807520:5,967,967G/C—uncertain significance
rs3488792120:5,967,972C/T—benign
rs15068497920:5,973,395A/Gintron variant—
rs156860298220:5,974,169C/G—uncertain significance
rs14966205920:5,974,202C/T—likely benign
rs37234355720:5,974,228A/G—uncertain significance
rs208989634720:5,974,244G/C—uncertain significance
rs76434661520:5,974,285A/G—uncertain significance
rs20087275420:5,974,340A/G—uncertain significance
rs125566602320:5,974,967T/C—uncertain significance
rs212285605520:5,974,984C/T—uncertain significance
rs20087880120:5,975,000A/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.