Varaico: Literature-Extracted Genetic Variants

Gene:POLD2
Variant:p.D167delFs

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.D167delFs
c.499_500delTC
Surrounding Variants
1 paper
NM_006230.4
p.K170T
c.509A>C
1 paper
NM_006230.4
p.S164S
c.492C>T
1 paper
NM_006230.4
p.Y176C
c.527A>G
1 paper
NM_006230.4
p.P189Q
c.566C>A
1 paper
NM_006230.4
p.D193N
c.577G>A
1 paper
NM_006230.4
p.E210K
c.628G>A
1 paper
NM_006230.4
p.G224W
c.670G>T
1 paper
NM_006230.4
p.G224E
c.671G>A
1 paper
NM_006230.4
p.A235A
c.705C>T
1 paper
NM_006230.4
p.R240L
c.719G>T
1 paper
NM_006230.4
p.S251N
c.752G>A
1 paper
NM_006230.4
p.R255G
c.763A>G
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