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

17 papers

NM_002542.6

p.A53T

c.157G>A

Surrounding Variants

1 paper

NM_002542.6

p.A53E

c.158C>A

1 paper

NM_002542.6

p.A53A

c.159A>C

1 paper

NM_002542.6

p.P52S

c.154C>T

1 paper

NM_002542.6

p.S51insFs

c.153dupT

1 paper

NM_002542.6

p.W55S

c.164G>C

1 paper

NM_002542.6

p.Q50P

c.149A>C

1 paper

NM_002542.6

p.Q50L

c.149A>T

1 paper

NM_002542.6

p.W55*

c.165G>A

1 paper

NM_002542.6

p.S56fs

c.166_167fs

1 paper

NM_002542.6

p.S56insFs

c.168dupT

1 paper

NM_002542.6

p.E49V

c.146A>T

1 paper

NM_002542.6

p.R48K

c.143G>A