Varaico: Literature-Extracted Genetic Variants

POLE2

73 papers

RefSeq Summary

DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small s...

Pfam Domains

Dpoe2NTaa 2–74UCSCDNA polymerases epsilon N terminal

DNA_pol_E_Baa 287–489UCSCDNA polymerase alpha/epsilon subunit B

Gene Aliases

HGNC Name

DNA polymerase epsilon 2, accessory subunit

HGNC Alias Symbol

DPE2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 84 variants

6 papers

NM_002692.4

p.Y472H

c.1414T>C

4 papers

NM_002692.4

p.L446L

c.1336T>C

2 papers

NM_002692.4

p.L275I

c.823C>A

2 papers

NM_002692.4

p.H356Q

c.1068C>G

2 papers

NM_002692.4

p.H356Q

c.1068C>A

2 papers

NM_002692.4

p.K443insFs

c.1328_1329insT

1 paper

NM_002692.4

p.M1L

c.1A>T

1 paper

NM_002692.4

p.A2_R9del0

c.6_26del21

1 paper

NM_002692.4

p.G23Splc

c.68+1665T>C

1 paper

NM_002692.4

p.E24fs

c.70_71fs

1 paper

NM_002692.4

p.A25T

c.73G>A

1 paper

NM_002692.4

p.L33F

c.97C>T