Varaico: Literature-Extracted Genetic Variants

Gene:OGG1
Variant:p.L39V

OGG1

1,056 papers

RefSeq Summary

This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase ...

Pfam Domains

OGG_Naa 25–141UCSC8-oxoguanine DNA glycosylase, N-terminal domain
HhH-GPDaa 142–296UCSCHhH-GPD superfamily base excision DNA repair protein
HhH-GPDaa 142–299UCSCHhH-GPD superfamily base excision DNA repair protein

Gene Aliases

HGNC Name

8-oxoguanine DNA glycosylase

HGNC Alias Symbols

HMMH; HOGG1; OGH1; MUTM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002542.6
p.L39V
c.115C>G
Surrounding Variants
1 paper
NM_002542.6
p.L39M
c.115C>A
1 paper
NM_002542.6
p.L39L
c.115C>T
1 paper
NM_002542.6
p.P40T
c.118C>A
1 paper
NM_002542.6
p.P40S
c.118C>T
1 paper
NM_002542.6
p.V38I
c.112G>A
1 paper
NM_002542.6
p.V38F
c.112G>T
1 paper
NM_002542.6
p.P40H
c.119C>A
1 paper
NM_002542.6
p.P40L
c.119C>T
1 paper
NM_002542.6
p.L37M
c.109C>A
1 paper
NM_002542.6
p.L37V
c.109C>G
1 paper
NM_002542.6
p.L37L
c.109C>T
1 paper
NM_002542.6
p.D36E
c.108C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."