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.R46L

c.137G>T

Surrounding Variants

55 papers

NM_002542.6

p.R46Q

c.137G>A

1 paper

NM_002542.6

p.R46G

c.136C>G

2 papers

NM_002542.6

p.F45L

c.135C>A

2 papers

NM_002542.6

p.F45L

c.135C>G

1 paper

NM_002542.6

p.F45F

c.135C>T

2 papers

NM_002542.6

p.F45L

c.133T>C

1 paper

NM_002542.6

p.F45V

c.133T>G

2 papers

NM_002542.6

p.R46Splc

c.137+5G>C

1 paper

NM_002542.6

p.S44Y

c.131C>A

2 papers

NM_002542.6

p.S44C

c.131C>G

1 paper

NM_002542.6

p.S44F

c.131C>T

1 paper

NM_002542.6

p.Q43*

c.127C>T