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.R97L

c.290G>T

Surrounding Variants

2 papers

NM_002542.6

p.R97C

c.289C>T

1 paper

NM_002542.6

p.K98delFs

c.293delA

1 paper

NM_002542.6

p.K98M

c.293A>T

1 paper

NM_002542.6

p.V96M

c.286G>A

1 paper

NM_002542.6

p.K98K

c.294G>A

1 paper

NM_002542.6

p.A95A

c.285C>T

1 paper

NM_002542.6

p.Y99delFs

c.296_297delAC

1 paper

NM_002542.6

p.A95V

c.284C>T

1 paper

NM_002542.6

p.Y99*

c.297C>G

1 paper

NM_002542.6

p.E94E

c.282G>A

1 paper

NM_002542.6

p.F100delFs

c.299_300delTC

1 paper

NM_002542.6

p.Q101E

c.301C>G