CDC6 Chromosome 17

Cell division cycle 6
10 variants 10 Health Risk

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What This Gene Does
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
CDC6-related disorder
Meier-Gorlin syndrome 5
Key Variants
All Variants (10)
RSID Category Clinical Significance Conditions
RS147186134 Health Risk Conflicting classifications of pathogenicity CDC6-related disorder, CDC6-related disorder
RS148004022 Health Risk Conflicting classifications of pathogenicity
RS181925915 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, CDC6-related disorder, Meier-Gorlin syndrome 5
RS182086857 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
RS193186571 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
RS200407669 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
RS200468440 Health Risk Conflicting classifications of pathogenicity
RS2032758309 Health Risk Conflicting classifications of pathogenicity
RS4135010 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
RS563505524 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
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