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.L190F

c.570A>T

Surrounding Variants

1 paper

NM_002692.4

p.L190F

c.570A>C

1 paper

NM_002692.4

p.Q189Q

c.567G>A

1 paper

NM_002692.4

p.E169V

c.506A>T

1 paper

NM_002692.4

p.E169G

c.506A>G

1 paper

NM_002692.4

p.E169*

c.505G>T

1 paper

NM_002692.4

p.P200R

c.599C>G

1 paper

NM_002692.4

p.Q212*

c.634C>T

1 paper

NM_002692.4

p.H214Y

c.640C>T

1 paper

NM_002692.4

p.H214R

c.641A>G

1 paper

NM_002692.4

p.S215G

c.643A>G

1 paper

NM_002692.4

p.T219_E220insA

c.655_659ins3

1 paper

NM_002692.4

p.L225S

c.674T>C