Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.N244S

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.N244S
c.731A>G
Surrounding Variants
1 paper
NM_001243787.2
p.N244I
c.731A>T
1 paper
NM_001243787.2
p.R243C
c.727C>T
1 paper
NM_001243787.2
p.P242P
c.726C>T
1 paper
NM_001243787.2
p.Q246K
c.736C>A
1 paper
NM_001243787.2
p.A247V
c.740C>T
1 paper
NM_001243787.2
p.N248Y
c.742A>T
1 paper
NM_001243787.2
p.P240H
c.719C>A
1 paper
NM_001243787.2
p.K249M
c.746A>T
1 paper
NM_001243787.2
p.H239L
c.716A>T
1 paper
NM_001243787.2
p.L238P
c.713T>C
1 paper
NM_001243787.2
p.E252Q
c.754G>C
1 paper
NM_001243787.2
p.E235K
c.703G>A
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