Varaico: Literature-Extracted Genetic Variants

Gene:POLD4
Variant:p.C99Y

POLD4

172 papers

RefSeq Summary

This gene encodes the smallest 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

DNA_pol_delta_4aa 27–97UCSCDNA polymerase delta, subunit 4

Gene Aliases

HGNC Name

DNA polymerase delta 4, accessory subunit

HGNC Alias Symbols

p12; POLDS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021173.5
p.C99Y
c.296G>A
Surrounding Variants
1 paper
NM_021173.5
p.S100T
c.299G>C
1 paper
NM_021173.5
p.S100N
c.299G>A
1 paper
NM_021173.5
p.Q98L
c.293A>T
1 paper
NM_021173.5
p.S100Splc
c.299+1G>C
1 paper
NM_021173.5
p.G93A
c.278G>C
2 papers
NM_021173.5
p.G93R
c.277G>C
2 papers
NM_021173.5
p.G93R
c.277G>A
1 paper
NM_021173.5
p.H91Y
c.271C>T
1 paper
NM_021173.5
p.W85L
c.254G>T
1 paper
NM_021173.5
p.W85R
c.253T>C
1 paper
NM_021173.5
p.E83V
c.248A>T
1 paper
NM_021173.5
p.E83insFs
c.247_248insC
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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."