Varaico: Literature-Extracted Genetic Variants

Gene:SMUG1
Variant:p.L6delFs

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.L6delFs
c.18delC
Surrounding Variants
1 paper
NM_001243787.2
p.L7L
c.19C>T
1 paper
NM_001243787.2
p.L7insFs
c.20_21insTG
1 paper
NM_001243787.2
p.G8G
c.24G>C
1 paper
NM_001243787.2
p.F5I
c.13T>A
1 paper
NM_001243787.2
p.I10F
c.28A>T
1 paper
NM_001243787.2
p.P2del1
c.4_5delGGG
5 papers
NM_001243787.2
p.Q3*
c.7C>T
1 paper
NM_001243787.2
p.H11Y
c.31C>T
2 papers
NM_001243787.2
p.H11R
c.32A>G
1 paper
NM_001243787.2
p.M1T
c.2T>C
1 paper
NM_001243787.2
p.A14S
c.40G>T
1 paper
NM_001243787.2
p.A14P
c.40G>C
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