Varaico: Literature-Extracted Genetic Variants

Gene:POLK
Variant:p.L731H

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
2 papers
NM_016218.6
p.L731H
c.2192T>A
Surrounding Variants
1 paper
NM_016218.6
p.L731F
c.2191C>T
1 paper
NM_016218.6
p.H740R
c.2219A>G
1 paper
NM_016218.6
p.S747F
c.2240C>T
2 papers
NM_016218.6
p.E754K
c.2260G>A
1 paper
NM_016218.6
p.I695V
c.2083A>G
1 paper
NM_016218.6
p.C769R
c.2305T>C
1 paper
NM_016218.6
p.G774V
c.2321G>T
1 paper
NM_016218.6
p.V778F
c.2332G>T
1 paper
NM_016218.6
p.C681*
c.2043T>A
1 paper
NM_016218.6
p.C681_Q684delFs
c.2042_2052del11
3 papers
NM_016218.6
p.S678F
c.2033C>T
1 paper
NM_016218.6
p.D799A
c.2396A>C
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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."