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.E73K

c.217G>A

Surrounding Variants

1 paper

NM_002692.4

p.E73_C74insFs

c.219_220insA

1 paper

NM_002692.4

p.A69G

c.206C>G

1 paper

NM_002692.4

p.K54M

c.161A>T

1 paper

NM_002692.4

p.S35C

c.104C>G

1 paper

NM_002692.4

p.L33F

c.97C>T

1 paper

NM_002692.4

p.A25T

c.73G>A

1 paper

NM_002692.4

p.E24fs

c.70_71fs

1 paper

NM_002692.4

p.I82M

c.246A>G

1 paper

NM_002692.4

p.V85I

c.253G>A

1 paper

NM_002692.4

p.I89V

c.265A>G

1 paper

NM_002692.4

p.F92I

c.274T>A

1 paper

NM_002692.4

p.P95S

c.283C>T