Varaico: Literature-Extracted Genetic Variants

Gene:POLK
Variant:p.S415N

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.S415N
c.1244G>A
Surrounding Variants
2 papers
NM_016218.6
p.S415fs
c.1243_1244fs
1 paper
NM_016218.6
p.S415fs
c.1243_1244fs
5 papers
NM_016218.6
p.S415delFs
c.1243delA
4 papers
NM_016218.6
p.E419G
c.1256A>G
1 paper
NM_016218.6
p.R409Splc
c.1226+2T>G
1 paper
NM_016218.6
p.T405I
c.1214C>T
3 papers
NM_016218.6
p.G403D
c.1208G>A
1 paper
NM_016218.6
p.L383F
c.1147C>T
1 paper
NM_016218.6
p.R380K
c.1139G>A
1 paper
NM_016218.6
p.L376F
c.1126C>T
1 paper
NM_016218.6
p.L365*
c.1094T>A
1 paper
NM_016218.6
p.L365*
c.1094T>G
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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."