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.G449fs

c.1345_1346fs

Surrounding Variants

1 paper

NM_002692.4

p.L451V

c.1351C>G

4 papers

NM_002692.4

p.L446L

c.1336T>C

2 papers

NM_002692.4

p.K443insFs

c.1328_1329insT

1 paper

NM_002692.4

p.K443*

c.1327A>T

1 paper

NM_002692.4

p.Y457H

c.1369T>C

1 paper

NM_002692.4

p.Y457delFs

c.1370_1371delAT

1 paper

NM_002692.4

p.A464fs

c.1390_1391fs

1 paper

NM_002692.4

p.A464delFs

c.1390delC

1 paper

NM_002692.4

p.Y465H

c.1393T>C

1 paper

NM_002692.4

p.L469insFs

c.1406dupT

1 paper

NM_002692.4

p.L469F

c.1407G>C

6 papers

NM_002692.4

p.Y472H

c.1414T>C