Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.R208W

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.R208W
c.622C>T
Surrounding Variants
1 paper
NM_001243787.2
p.V207L
c.619G>T
1 paper
NM_001243787.2
p.V207L
c.619G>C
1 paper
NM_001243787.2
p.L205P
c.614T>C
1 paper
NM_001243787.2
p.Q203H
c.609G>T
1 paper
NM_001243787.2
p.V202G
c.605T>G
1 paper
NM_001243787.2
p.G214insFs
c.641_642insT
1 paper
NM_001243787.2
p.Q201Q
c.603G>A
1 paper
NM_001243787.2
p.Q201*
c.601C>T
1 paper
NM_001243787.2
p.Q201E
c.601C>G
1 paper
NM_001243787.2
p.L198_C199ins7
c.592_596ins21
1 paper
NM_001243787.2
p.E218E
c.654G>A
1 paper
NM_001243787.2
p.A196A
c.588A>T
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