Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.S30G

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
2 papers
NM_001243787.2
p.S30G
c.88A>G
Surrounding Variants
1 paper
NM_001243787.2
p.E29E
c.87G>A
1 paper
NM_001243787.2
p.A28V
c.83C>T
1 paper
NM_001243787.2
p.A28T
c.82G>A
1 paper
NM_001243787.2
p.L27L
c.81G>A
1 paper
NM_001243787.2
p.L27L
c.79T>C
1 paper
NM_001243787.2
p.E33G
c.98A>G
1 paper
NM_001243787.2
p.E35D
c.105G>T
1 paper
NM_001243787.2
p.C23S
c.68G>C
1 paper
NM_001243787.2
p.C23R
c.67T>C
1 paper
NM_001243787.2
p.C23S
c.67T>A
1 paper
NM_001243787.2
p.L38F
c.112C>T
1 paper
NM_001243787.2
p.Q21*
c.61C>T
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