POLD2 Chromosome 7

DNA polymerase delta 2, accessory subunit
1 variant 1 Health Risk

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What This Gene Does
This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
7p13
Ensembl
ENSG00000106628
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS140100815 Health Risk Conflicting classifications of pathogenicity
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