MCM2 Chromosome 3

Minichromosome maintenance complex component 2
11 variants 11 Health Risk

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What This Gene Does
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
"MCM family|minichromosome maintenance 2-7 complex"
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000073111
Key Variants
All Variants (11)
RSID Category Clinical Significance Conditions
RS139163788 Health Risk Conflicting classifications of pathogenicity
RS139336906 Health Risk Conflicting classifications of pathogenicity
RS140905579 Health Risk Conflicting classifications of pathogenicity
RS140928153 Health Risk Conflicting classifications of pathogenicity
RS200244254 Health Risk Conflicting classifications of pathogenicity
RS200752349 Health Risk Conflicting classifications of pathogenicity
RS543054543 Health Risk Conflicting classifications of pathogenicity
RS749079722 Health Risk Conflicting classifications of pathogenicity
RS756785735 Health Risk Conflicting classifications of pathogenicity
RS1553743140 Health Risk Likely pathogenic
RS2074353310 Health Risk Likely pathogenic
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