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

1 paper

NM_002542.6

p.G245delFs

c.733delG

Surrounding Variants

2 papers

NM_002542.6

p.G245R

c.733G>A

1 paper

NM_002542.6

p.G245R

c.733G>C

1 paper

NM_002542.6

p.G245E

c.734G>A

1 paper

NM_002542.6

p.V246L

c.736G>T

1 paper

NM_002542.6

p.L243V

c.727C>G

1 paper

NM_002542.6

p.G247R

c.739G>C

1 paper

NM_002542.6

p.G247D

c.740G>A

1 paper

NM_002542.6

p.C241R

c.721T>C

30 papers

NM_002542.6

p.K249Q

c.745A>C

1 paper

NM_002542.6

p.H237delFs

c.710delA

1 paper

NM_002542.6

p.A236A

c.708C>T

7 papers

NM_002542.6

p.S232T

c.694T>A