Polymerase, DNA, Epsilon

Alternative Names

POLE
Polymerase, DNA, Epsilon-1
POLE1

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Length

63,767 bases

No. of Exons

No. of isoforms

Protein Name

DNA polymerase epsilon catalytic subunit A

Molecular Mass

261518 Da

Amino Acid Count

2286

Genomic Location

chr12:132,623,753-132,687,519

Gene Map Locus

12q24.33

Description

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_006231.4:c.2276G>A	Lebanon	chr12:132667546		Uncertain Significance	Breast Cancer	NG_033840.1:g.24979G>A; NM_006231.4:c.2276G>A ; NP_006222.2:p.Arg759His	746774432	240431
NM_006231.4:c.3890C>T	Lebanon	chr12:132649421		Uncertain Significance	Breast Cancer	NG_033840.1:g.43104C>T; NM_006231.4:c.3890C>T; NP_006222.2:p.Ser1297Leu	746585658	240486

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=POLE https://www.ncbi.nlm.nih.gov/gene/5426

Contributors

Pratibha Nair: 06.09.2020

Edit History

Pratibha Nair: 06.09.2020