Varaico: Literature-Extracted Genetic Variants

Gene:POLD2
Variant:p.R57G

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.R57G
c.169C>G
Surrounding Variants
1 paper
NM_006230.4
p.R57R
c.171C>T
1 paper
NM_006230.4
p.T56P
c.166A>C
2 papers
NM_006230.4
p.R68L
c.203G>T
1 paper
NM_006230.4
p.L14P
c.41T>C
1 paper
NM_006230.4
p.A6P
c.16G>C
1 paper
NM_006230.4
p.Q5*
c.13C>T
1 paper
NM_006230.4
p.R109Q
c.326G>A
1 paper
NM_006230.4
p.L118L
c.354C>T
1 paper
NM_006230.4
p.R141C
c.421C>T
1 paper
NM_006230.4
p.V154I
c.460G>A
1 paper
NM_006230.4
p.S164S
c.492C>T
1 paper
NM_006230.4
p.D167delFs
c.499_500delTC
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