Polymerase (DNA-Directed), Delta 1, Catalytic Subunit

Alternative Names

POLD1
Polymerase, DNA, Delta
POLD

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Length

33,815 bases

No. of Exons

No. of isoforms

Protein Name

DNA polymerase delta catalytic subunit

Molecular Mass

123631 Da

Amino Acid Count

1107

Genomic Location

chr19:50,384,204-50,418,018

Gene Map Locus

19q13.33

Description

This gene encodes the 125-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. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_002691.4:c.2257T>C	Lebanon	chr19:50413748	Uncertain Significance	Breast Cancer	NG_033800.1:g.34426T>C; NM_002691.4:c.2257T>C; NP_002682.2:p.Tyr753His
NM_002691.4:c.2793G>C	Lebanon	NC_000019.10:g.50415799G>C	Uncertain Significance	Breast Cancer	NG_033800.1:g.36477G>C; NM_002691.4:c.2793G>C; NP_002682.2:p.Lys931Asn	2039265074
NM_002691.4:c.519C>G	Lebanon	chr19:50402054	Uncertain Significance	Breast Cancer	NG_033800.1:g.22732C>G; NM_002691.4:c.519C>G; NP_002682.2:p.Ser173Arg	1555789901	469359

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=POLD1 https://www.ncbi.nlm.nih.gov/gene/5424

Contributors

Pratibha Nair: 06.09.2020

Edit History

Pratibha Nair: 06.09.2020