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.I306T

c.917T>C

Surrounding Variants

1 paper

NM_002692.4

p.R305G

c.913C>G

1 paper

NM_002692.4

p.L295V

c.883T>G

1 paper

NM_002692.4

p.D284G

c.851A>G

2 papers

NM_002692.4

p.L275I

c.823C>A

1 paper

NM_002692.4

p.Y254H

c.760T>C

1 paper

NM_002692.4

p.Y311F

c.932A>T

1 paper

NM_002692.4

p.S327A

c.979T>G

1 paper

NM_002692.4

p.A328V

c.983C>T

1 paper

NM_002692.4

p.D340Splc

c.1019-1G>C

1 paper

NM_002692.4

p.H356delFs

c.1066delG

2 papers

NM_002692.4

p.H356Q

c.1068C>G

2 papers

NM_002692.4

p.H356Q

c.1068C>A