Varaico: Literature-Extracted Genetic Variants

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

12 papers

NM_002542.6

p.R131Q

c.392G>A

Surrounding Variants

1 paper

NM_002542.6

p.R131R

c.391C>A

1 paper

NM_002542.6

p.R131G

c.391C>G

3 papers

NM_002542.6

p.R131*

c.391C>T

1 paper

NM_002542.6

p.L133L

c.399G>A

1 paper

NM_002542.6

p.R134delFs

c.400delC

1 paper

NM_002542.6

p.G129Splc

c.386-2A>G

3 papers

NM_002542.6

p.R134Q

c.401G>A

1 paper

NM_002542.6

p.Q135delFs

c.403delC

1 paper

NM_002542.6

p.D136N

c.406G>A

1 paper

NM_002542.6

p.D136Y

c.406G>T

1 paper

NM_002542.6

p.G129Splc

c.386-25T>C

1 paper

NM_002542.6

p.S143Y

c.428C>A