Varaico: Literature-Extracted Genetic Variants

Gene:OGG1
Variant:p.A329_Q330delFs

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.A329_Q330delFs
c.987_988delTC
Surrounding Variants
1 paper
NM_002542.6
p.Q330*
c.988C>T
1 paper
NM_002542.6
p.R327C
c.979C>T
1 paper
NM_002542.6
p.E331G
c.992A>G
690 papers
NM_002542.6
p.S326C
c.977C>G
NM_016820.4
p.P332A
c.994C>G
NM_016828.3
p.A316_L317Splc
c.948+273C>G
9 papers
NM_002542.6
p.P332A
c.994C>G
1 paper
NM_002542.6
p.P333delFs
c.998delC
1 paper
NM_002542.6
p.R324R
c.972C>G
1 paper
NM_002542.6
p.R324H
c.971G>A
1 paper
NM_002542.6
p.L323L
c.967C>T
1 paper
NM_002542.6
p.D322D
c.966C>T
1 paper
NM_002542.6
p.D322A
c.965A>C
5 papers
NM_002542.6
p.D322N
c.964G>A
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