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.R277L

c.830G>T

Surrounding Variants

2 papers

NM_002542.6

p.R277H

c.830G>A

2 papers

NM_002542.6

p.Q276Q

c.828A>G

1 paper

NM_002542.6

p.I274fs

c.820_821fs

3 papers

NM_002542.6

p.W281*

c.842G>A

1 paper

NM_002542.6

p.H273Y

c.817C>T

1 paper

NM_002542.6

p.H282Y

c.844C>T

1 paper

NM_002542.6

p.W272*

c.815G>A

2 papers

NM_002542.6

p.P283S

c.847C>T

1 paper

NM_002542.6

p.H270R

c.809A>G

1 paper

NM_002542.6

p.H270L

c.809A>T

1 paper

NM_002542.6

p.H270Y

c.808C>T

1 paper

NM_002542.6

p.T285M

c.854C>T