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.G221R

c.661G>A

Surrounding Variants

1 paper

NM_002542.6

p.G221R

c.661G>C

1 paper

NM_002542.6

p.A223T

c.667G>A

1 paper

NM_002542.6

p.E218G

c.653A>G

1 paper

NM_002542.6

p.E218_Q219delFs

c.654_655delAC

1 paper

NM_002542.6

p.E218insFs

c.652_653insG

1 paper

NM_002542.6

p.E218delFs

c.652delG

1 paper

NM_002542.6

p.L225L

c.673C>T

1 paper

NM_002542.6

p.L216L

c.646C>T

1 paper

NM_002542.6

p.Q226H

c.678G>C

1 paper

NM_002542.6

p.Q226H

c.678G>T

1 paper

NM_002542.6

p.R213Q

c.638G>A

3 papers

NM_002542.6

p.R213*

c.637C>T