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

2 papers

NM_002542.6

p.D175N

c.523G>A

Surrounding Variants

1 paper

NM_002542.6

p.Q172H

c.516G>C

1 paper

NM_002542.6

p.Q172H

c.516G>T

1 paper

NM_002542.6

p.H179insFs

c.535_536insA

1 paper

NM_002542.6

p.H179fs

c.535_536fs

1 paper

NM_002542.6

p.H179Y

c.535C>T

3 papers

NM_002542.6

p.H179R

c.536A>G

3 papers

NM_002542.6

p.R169Q

c.506G>A

2 papers

NM_002542.6

p.R169W

c.505C>T

1 paper

NM_002542.6

p.S183N

c.548G>A

1 paper

NM_002542.6

p.L184L

c.552G>A

2 papers

NM_002542.6

p.L187Q

c.560T>A

2 papers

NM_002542.6

p.R161W

c.481C>T