Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.Y55C

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.Y55C
c.164A>G
Surrounding Variants
1 paper
NM_001243787.2
p.I53M
c.159C>G
1 paper
NM_001243787.2
p.V58M
c.172G>A
1 paper
NM_001243787.2
p.A61P
c.181G>C
1 paper
NM_001243787.2
p.E49V
c.146A>T
1 paper
NM_001243787.2
p.S48S
c.144G>A
2 papers
NM_001243787.2
p.S48L
c.143C>T
1 paper
NM_001243787.2
p.S48P
c.142T>C
1 paper
NM_001243787.2
p.Q46*
c.136C>T
1 paper
NM_001243787.2
p.L45R
c.134T>G
1 paper
NM_001243787.2
p.Q44Q
c.132G>A
1 paper
NM_001243787.2
p.R66_N67insFs
c.198_199ins7
1 paper
NM_001243787.2
p.L42L
c.126G>T
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