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.R133Q

c.398G>A

Surrounding Variants

1 paper

NM_002692.4

p.P117L

c.350C>T

1 paper

NM_002692.4

p.P115P

c.345T>A

1 paper

NM_002692.4

p.H114R

c.341A>G

1 paper

NM_002692.4

p.P95S

c.283C>T

1 paper

NM_002692.4

p.F92I

c.274T>A

1 paper

NM_002692.4

p.I89V

c.265A>G

1 paper

NM_002692.4

p.V85I

c.253G>A

1 paper

NM_002692.4

p.I82M

c.246A>G

1 paper

NM_002692.4

p.T141I

c.422C>T

1 paper

NM_002692.4

p.R143W

c.427A>T

1 paper

NM_002692.4

p.K162E

c.484A>G

1 paper

NM_002692.4

p.E73_C74insFs

c.219_220insA