Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.M229L

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
Selected Variant
1 paper
NM_001243787.2
p.M229L
c.685A>C
Surrounding Variants
1 paper
NM_001243787.2
p.M229L
c.685A>T
1 paper
NM_001243787.2
p.E231G
c.692A>G
3 papers
NM_001243787.2
p.A226V
c.677C>T
1 paper
NM_001243787.2
p.V232V
c.696C>T
1 paper
NM_001243787.2
p.Q233*
c.697C>T
1 paper
NM_001243787.2
p.Q233P
c.698A>C
1 paper
NM_001243787.2
p.A224V
c.671C>T
1 paper
NM_001243787.2
p.E235K
c.703G>A
1 paper
NM_001243787.2
p.R222Q
c.665G>A
1 paper
NM_001243787.2
p.R220delFs
c.658_659delCG
1 paper
NM_001243787.2
p.R220W
c.658C>T
1 paper
NM_001243787.2
p.L238P
c.713T>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."