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

Selected Variant

1 paper

NM_002692.4

p.V364L

c.1090G>T

Surrounding Variants

1 paper

NM_002692.4

p.V364L

c.1090G>C

1 paper

NM_002692.4

p.S359del1

c.1075_1076delACT

1 paper

NM_002692.4

p.S358R

c.1074T>G

1 paper

NM_002692.4

p.S358R

c.1074T>A

1 paper

NM_002692.4

p.S358Splc

c.1074-1G>T

1 paper

NM_002692.4

p.S358R

c.1072A>C

1 paper

NM_002692.4

p.A382insFs

c.1146dupT

1 paper

NM_002692.4

p.S384fs

c.1150_1151fs

1 paper

NM_002692.4

p.Q391H

c.1173A>C

2 papers

NM_002692.4

p.H356Q

c.1068C>G

2 papers

NM_002692.4

p.H356Q

c.1068C>A

1 paper

NM_002692.4

p.H356delFs

c.1066delG