Varaico: Literature-Extracted Genetic Variants

Gene:TDG
Variant:p.E354K

TDG

144 papers

RefSeq Summary

The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond betwe...

Pfam Domains

UDGaa 125–293UCSCUracil DNA glycosylase superfamily

Gene Aliases

HGNC Name

thymine DNA glycosylase

HGNC Alias Name

G/T mismatch-specific thymine DNA glycosylase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003211.6
p.E354K
c.1060G>A
Surrounding Variants
1 paper
NM_003211.6
p.P355insFs
c.1063dupC
1 paper
NM_003211.6
p.S352N
c.1055G>A
2 papers
NM_003211.6
p.G347R
c.1039G>A
1 paper
NM_003211.6
p.G347R
c.1039G>C
1 paper
NM_003211.6
p.Y346D
c.1036T>G
1 paper
NM_003211.6
p.I364insFs
c.1090_1091insTT
3 papers
NM_003211.6
p.I364insFs
c.1090_1091ins8
1 paper
NM_003211.6
p.G343V
c.1028G>T
2 papers
NM_003211.6
p.E332K
c.994G>A
1 paper
NM_003211.6
p.K330R
c.989A>G
1 paper
NM_003211.6
p.D323A
c.968A>C
1 paper
NM_003211.6
p.D323N
c.967G>A
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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."