Varaico: Literature-Extracted Genetic Variants

Gene:OGG1
Variant:p.R229Q

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
29 papers
NM_002542.6
p.R229Q
c.686G>A
Surrounding Variants
1 paper
NM_002542.6
p.R229P
c.686G>C
3 papers
NM_002542.6
p.R229*
c.685C>T
2 papers
NM_002542.6
p.E230Q
c.688G>C
1 paper
NM_002542.6
p.S231S
c.693C>G
1 paper
NM_002542.6
p.Q226H
c.678G>C
1 paper
NM_002542.6
p.Q226H
c.678G>T
7 papers
NM_002542.6
p.S232T
c.694T>A
1 paper
NM_002542.6
p.L225L
c.673C>T
1 paper
NM_002542.6
p.A223T
c.667G>A
1 paper
NM_002542.6
p.A236A
c.708C>T
1 paper
NM_002542.6
p.H237delFs
c.710delA
1 paper
NM_002542.6
p.G221R
c.661G>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."