Varaico: Literature-Extracted Genetic Variants

Gene:POLK
Variant:p.E544fs

POLK

128 papers

RefSeq Summary

This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication i...

Pfam Domains

IMSaa 106–325UCSCimpB/mucB/samB family
IMS_HHHaa 339–370UCSCIMS family HHH motif
IMS_Caa 413–529UCSCimpB/mucB/samB family C-terminal domain

Gene Aliases

HGNC Name

DNA polymerase kappa

HGNC Previous Symbol

DINB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016218.6
p.E544fs
c.1630_1631fs
Surrounding Variants
1 paper
NM_016218.6
p.E544delFs
c.1631delA
1 paper
NM_016218.6
p.T546A
c.1636A>G
1 paper
NM_016218.6
p.K549E
c.1645A>G
1 paper
NM_016218.6
p.D551N
c.1651G>A
2 papers
NM_016218.6
p.D551V
c.1652A>T
1 paper
NM_016218.6
p.Q534H
c.1602G>C
1 paper
NM_016218.6
p.Q534H
c.1602G>T
1 paper
NM_016218.6
p.G531S
c.1591G>A
1 paper
NM_016218.6
p.I530V
c.1588A>G
2 papers
NM_016218.6
p.I529V
c.1585A>G
1 paper
NM_016218.6
p.S528N
c.1583G>A
2 papers
NM_016218.6
p.S528C
c.1582A>T
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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."