Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1

SMUG1

192 papers

RefSeq Summary

This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the f...

Pfam Domains

UDGaa 70–263UCSCUracil DNA glycosylase superfamily

Gene Aliases

HGNC Name

single-strand-selective monofunctional uracil-DNA glycosylase 1

HGNC Alias Symbols

UNG3; FDG; HMUDG

Papers
RefSeq ID
Protein change
DNA change
1–12 of 157 variants
5 papers
NM_001243787.2
p.Q3*
c.7C>T
5 papers
NM_001243787.2
p.G15V
c.44G>T
3 papers
NM_001243787.2
p.R71G
c.211C>G
3 papers
NM_001243787.2
p.R105W
c.313C>T
3 papers
NM_001243787.2
p.A226V
c.677C>T
2 papers
NM_001243787.2
p.H11R
c.32A>G
2 papers
NM_001243787.2
p.A14T
c.40G>A
2 papers
NM_001243787.2
p.S30G
c.88A>G
2 papers
NM_001243787.2
p.S48L
c.143C>T
2 papers
NM_001243787.2
p.R124*
c.370C>T
2 papers
NM_001243787.2
p.R175H
c.524G>A
2 papers
NM_001243787.2
p.N244S
c.731A>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."