Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.T178N

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.T178N
c.533C>A
Surrounding Variants
1 paper
NM_001243787.2
p.T178A
c.532A>G
1 paper
NM_001243787.2
p.R175_L177delFs
c.524_531del8
1 paper
NM_001243787.2
p.P179A
c.535C>G
1 paper
NM_001243787.2
p.E181K
c.541G>A
2 papers
NM_001243787.2
p.R175H
c.524G>A
1 paper
NM_001243787.2
p.R175C
c.523C>T
1 paper
NM_001243787.2
p.A184V
c.551C>T
1 paper
NM_001243787.2
p.L170fs
c.508_509fs
1 paper
NM_001243787.2
p.Q186R
c.557A>G
1 paper
NM_001243787.2
p.R187Q
c.560G>A
1 paper
NM_001243787.2
p.R187R
c.561A>T
1 paper
NM_001243787.2
p.L168R
c.503T>G
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