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.N296_K297del2

c.886_890del6

Surrounding Variants

1 paper

NM_002542.6

p.K297*

c.889A>T

1 paper

NM_002542.6

p.Q294E

c.880C>G

1 paper

NM_002542.6

p.S292N

c.875G>A

1 paper

NM_002542.6

p.S292C

c.874A>T

1 paper

NM_002542.6

p.P291_S292insFs

c.873_874insC

1 paper

NM_002542.6

p.L299_G300ins2

c.897_898ins6

1 paper

NM_002542.6

p.P291Q

c.872C>A

1 paper

NM_002542.6

p.G300ins2

c.898_899ins6

1 paper

NM_002542.6

p.G300E

c.899G>A

1 paper

NM_002542.6

p.G300Splc

c.898+1G>T

1 paper

NM_002542.6

p.G300Splc

c.898+2T>G

1 paper

NM_002542.6

p.G290E

c.869G>A