Varaico: Literature-Extracted Genetic Variants

Gene:TDG
Variant:p.S396N

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.S396N
c.1187G>A
Surrounding Variants
1 paper
NM_003211.6
p.P393S
c.1177C>T
1 paper
NM_003211.6
p.I392S
c.1175T>G
1 paper
NM_003211.6
p.Q402*
c.1204C>T
1 paper
NM_003211.6
p.E403K
c.1207G>A
1 paper
NM_003211.6
p.E403delFs
c.1209delA
1 paper
NM_003211.6
p.E407K
c.1219G>A
1 paper
NM_003211.6
p.T385delFs
c.1154delC
1 paper
NM_003211.6
p.G381E
c.1142G>A
1 paper
NM_003211.6
p.P379H
c.1136C>A
1 paper
NM_003211.6
p.A374T
c.1120G>A
7 papers
NM_003211.6
p.V367M
c.1099G>A
1 paper
NM_003211.6
p.V367L
c.1099G>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."