Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.C131R

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.C131R
c.391T>C
Surrounding Variants
1 paper
NM_001243787.2
p.E130insFs
c.388dupG
1 paper
NM_001243787.2
p.P132T
c.394C>A
1 paper
NM_001243787.2
p.S137N
c.410G>A
2 papers
NM_001243787.2
p.R124*
c.370C>T
1 paper
NM_001243787.2
p.A139A
c.417C>T
1 paper
NM_001243787.2
p.P122R
c.365C>G
1 paper
NM_001243787.2
p.R140*
c.418C>T
1 paper
NM_001243787.2
p.E120D
c.360G>T
1 paper
NM_001243787.2
p.E120D
c.360G>C
1 paper
NM_001243787.2
p.E120G
c.359A>G
1 paper
NM_001243787.2
p.E120K
c.358G>A
1 paper
NM_001243787.2
p.P117L
c.350C>T
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