Varaico: Literature-Extracted Genetic Variants

POLE

1,876 papers

RefSeq Summary

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 can...

Pfam Domains

DNA_pol_B_exo1aa 219–427UCSCDNA polymerase family B, exonuclease domain

POL2_thumbaa 975–1152UCSCDNA polymerase epsilon catalytic subunit A, thumb domain

DUF1744aa 1537–1925UCSCDomain of unknown function (DUF1744)

zf_DPOE_2aa 2141–2213UCSCZinc finger domain of DNA polymerase-epsilon

zf-DPOEaa 2215–2272UCSCZinc finger domain of DNA polymerase-epsilon

Gene Aliases

HGNC Name

DNA polymerase epsilon, catalytic subunit

HGNC Alias Symbol

POLE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006231.4

p.D443G

c.1328A>G

Surrounding Variants

1 paper

NM_006231.4

p.D443N

c.1327G>A

1 paper

NM_006231.4

p.M444L

c.1330A>T

2 papers

NM_006231.4

p.M444V

c.1330A>G

1 paper

NM_006231.4

p.M444L

c.1330A>C

1 paper

NM_006231.4

p.M444R

c.1331T>G

1 paper

NM_006231.4

p.M444T

c.1331T>C

68 papers

NM_006231.4

p.M444K

c.1331T>A

2 papers

NM_006231.4

p.M444I

c.1332G>T

3 papers

NM_006231.4

p.M444I

c.1332G>C

4 papers

NM_006231.4

p.E442K

c.1324G>A

2 papers

NM_006231.4

p.M444I

c.1332G>A

1 paper

NM_006231.4

p.P441P

c.1323G>T