Varaico: Literature-Extracted Genetic Variants

Gene:POLD2
Variant:p.N406S

POLD2

52 papers

RefSeq Summary

This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication an...

Pfam Domains

DNA_pol_D_Naa 49–176UCSCDNA polymerase delta subunit OB-fold domain
DNA_pol_D_Naa 84–211UCSCDNA polymerase delta subunit OB-fold domain
DNA_pol_E_Baa 196–412UCSCDNA polymerase alpha/epsilon subunit B

Gene Aliases

HGNC Name

DNA polymerase delta 2, accessory subunit

HGNC Previous Names

polymerase (DNA directed), delta 2, regulatory subunit (50kD); polymerase (DNA directed), delta 2, regulatory subunit 50kDa; polymerase (DNA) delta 2, accessory subunit

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006230.4
p.N406S
c.1217A>G
Surrounding Variants
1 paper
NM_006230.4
p.F403L
c.1209T>G
1 paper
NM_006230.4
p.F403L
c.1209T>A
1 paper
NM_006230.4
p.F403L
c.1207T>C
1 paper
NM_006230.4
p.P392L
c.1175C>T
1 paper
NM_006230.4
p.P386L
c.1157C>T
1 paper
NM_006230.4
p.L424V
c.1270C>G
1 paper
NM_006230.4
p.V440V
c.1320G>A
1 paper
NM_006230.4
p.R443C
c.1327C>T
1 paper
NM_006230.4
p.R370Q
c.1109G>A
1 paper
NM_006230.4
p.E359K
c.1075G>A
1 paper
NM_006230.4
p.R354Q
c.1061G>A
1 paper
NM_006230.4
p.N348D
c.1042A>G
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