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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17220251	20:5,932,650	T/C	—	benign
rs1356963234	20:5,932,687	G/T	—	uncertain significance
rs906306910	20:5,932,750	A/C	—	uncertain significance
rs145200960	20:5,932,789	C/G	—	uncertain significance
rs577098006	20:5,932,795	G/A	—	uncertain significance
rs2514388094	20:5,933,090	C/T	—	uncertain significance
rs367862136	20:5,933,094	C/T	—	uncertain significance
rs2088857471	20:5,933,096	A/G	—	uncertain significance
rs888971029	20:5,933,111	T/G	—	uncertain significance
rs752298258	20:5,935,261	C/T	—	likely benign
rs75208981	20:5,935,292	G/C	—	benign
rs771347448	20:5,935,319	A/G	—	uncertain significance
rs146162868	20:5,935,325	T/G	—	benign
rs236114	20:5,935,385	T/A	—	—
rs781597825	20:5,935,823	A/G	—	uncertain significance
rs145133959	20:5,935,825	A/G	—	likely benign
rs116926921	20:5,935,832	A/G	—	benign
rs606231343	20:5,935,857	C/G	missense variant	pathogenic
rs58487183	20:5,935,875	G/A	—	benign
rs140044814	20:5,935,893	A/C	—	likely pathogenic
rs766695443	20:5,937,817	C/G	—	uncertain significance
rs16991591	20:5,937,833	A/G	—	benign
rs757801718	20:5,937,839	G/C	—	uncertain significance
rs2089009080	20:5,937,860	C/A	—	uncertain significance
rs749145152	20:5,939,220	A/G	—	uncertain significance
rs373810010	20:5,939,263	G/A	—	uncertain significance
rs564333787	20:5,939,265	G/T	—	uncertain significance
rs750002618	20:5,939,268	A/G	—	uncertain significance
rs451417	20:5,941,999	C/A	upstream gene variant	—
rs454422	20:5,943,693	C/G	—	—
rs2514428654	20:5,943,918	A/G	—	likely pathogenic
rs1457602149	20:5,943,932	G/A	—	uncertain significance
rs146490315	20:5,943,962	C/T	—	likely benign
rs35028990	20:5,943,974	C/T	—	benign
rs201832610	20:5,944,012	G/A	—	likely benign
rs200653375	20:5,948,123	G/A	—	uncertain significance
rs201115244	20:5,948,131	C/T	—	pathogenic
rs149767423	20:5,948,160	T/C	—	benign
rs1453123165	20:5,948,161	C/T	—	uncertain significance
rs16991615	20:5,948,227	G/A	missense variant	—
rs757546009	20:5,948,481	C/T	—	conflicting classifications of pathogenicity
rs35180674	20:5,948,540	T/C	—	benign
rs144330688	20:5,948,544	A/C	—	uncertain significance
rs1241716506	20:5,948,572	A/G	—	uncertain significance
rs4815879	20:5,949,534	G/A	downstream gene variant	—
rs76498344	20:5,951,451	T/C	intron variant	—
rs369424165	20:5,953,766	A/G	—	uncertain significance
rs373319946	20:5,953,777	A/G	—	uncertain significance
rs2514463485	20:5,953,787	A/C	—	uncertain significance
rs111358491	20:5,956,389	G/T	intron variant	—
rs531099221	20:5,958,530	C/A	—	likely pathogenic
rs1037875545	20:5,958,555	G/A	—	uncertain significance
rs869320753	20:5,958,596	—	—	pathogenic
rs2514481024	20:5,958,637	C/T	—	uncertain significance
rs138634048	20:5,958,888	C/T	intron variant	—
rs148563363	20:5,959,697	G/A	intron variant	—
rs781623716	20:5,963,682	A/G	—	uncertain significance
rs61752029	20:5,963,747	A/G	—	uncertain significance
rs769741745	20:5,963,765	G/C	—	uncertain significance
rs142959269	20:5,964,219	G/A	intron variant	—
rs2514500246	20:5,965,425	A/G	—	likely pathogenic
rs753410449	20:5,965,431	G/A	—	uncertain significance
rs952431370	20:5,965,435	G/A	—	uncertain significance
rs61752030	20:5,965,465	T/C	—	uncertain significance
rs2089698940	20:5,965,563	A/G	—	uncertain significance
rs372269555	20:5,965,583	T/A	—	uncertain significance
rs777336839	20:5,965,633	C/T	—	uncertain significance
rs775156125	20:5,965,647	G/C	—	likely pathogenic
rs184152816	20:5,965,818	G/A	intron variant	—
rs138761187	20:5,966,567	G/A	splice region variant	pathogenic
rs778253177	20:5,966,569	T/G	—	uncertain significance
rs751529603	20:5,966,634	C/T	—	uncertain significance
rs201911318	20:5,966,644	T/C	—	uncertain significance
rs2514504175	20:5,966,664	G/C	—	uncertain significance
rs140773345	20:5,966,673	C/T	—	pathogenic
rs149433613	20:5,966,674	G/A	—	benign
rs780458225	20:5,966,736	A/G	—	uncertain significance
rs61754763	20:5,966,763	G/A	—	benign
rs200538075	20:5,967,967	G/C	—	uncertain significance
rs34887921	20:5,967,972	C/T	—	benign
rs150684979	20:5,973,395	A/G	intron variant	—
rs1568602982	20:5,974,169	C/G	—	uncertain significance
rs149662059	20:5,974,202	C/T	—	likely benign
rs372343557	20:5,974,228	A/G	—	uncertain significance
rs2089896347	20:5,974,244	G/C	—	uncertain significance
rs764346615	20:5,974,285	A/G	—	uncertain significance
rs200872754	20:5,974,340	A/G	—	uncertain significance
rs1255666023	20:5,974,967	T/C	—	uncertain significance
rs2122856055	20:5,974,984	C/T	—	uncertain significance
rs200878801	20:5,975,000	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.