Varaico: Literature-Extracted Genetic Variants

Gene:POLD3
Variant:p.V336Splc

POLD3

203 papers

RefSeq Summary

This gene encodes the 66-kDa 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 and repair. ...

Pfam Domains

CDC27aa 19–466UCSCDNA polymerase subunit Cdc27

Gene Aliases

HGNC Name

DNA polymerase delta 3, accessory subunit

HGNC Alias Symbols

P66; KIAA0039; P68; PPP1R128

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006591.3
p.V336Splc
c.1006+1G>A
Surrounding Variants
1 paper
NM_006591.3
p.E335Fs
c.1003delinsGAFs
2 papers
NM_006591.3
p.P327L
c.980C>T
1 paper
NM_006591.3
p.P327S
c.979C>T
1 paper
NM_006591.3
p.K319R
c.956A>G
1 paper
NM_006591.3
p.M317insFs
c.950_951insA
1 paper
NM_006591.3
p.D308H
c.922G>C
1 paper
NM_006591.3
p.S307S
c.921T>C
1 paper
NM_006591.3
p.K302T
c.905A>C
3 papers
NM_006591.3
p.R300Splc
c.900-1G>C
5 papers
NM_006591.3
p.R300fs
c.898_899fs
1 paper
NM_006591.3
p.E297insFs
c.890dupA
1 paper
NM_006591.3
p.E297fs
c.889_890fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."