Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.R105W

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
3 papers
NM_001243787.2
p.R105W
c.313C>T
Surrounding Variants
1 paper
NM_001243787.2
p.V104I
c.310G>A
1 paper
NM_001243787.2
p.F98fs
c.292_293fs
1 paper
NM_001243787.2
p.F98L
c.292T>C
1 paper
NM_001243787.2
p.P97delFs
c.291delG
1 paper
NM_001243787.2
p.P97S
c.289C>T
1 paper
NM_001243787.2
p.L115L
c.343C>T
1 paper
NM_001243787.2
p.L115L
c.345G>T
1 paper
NM_001243787.2
p.P117S
c.349C>T
1 paper
NM_001243787.2
p.P117A
c.349C>G
1 paper
NM_001243787.2
p.P117L
c.350C>T
1 paper
NM_001243787.2
p.P117R
c.350C>G
1 paper
NM_001243787.2
p.E120K
c.358G>A
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