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.H270Y

c.808C>T

Surrounding Variants

1 paper

NM_002542.6

p.H270R

c.809A>G

1 paper

NM_002542.6

p.H270L

c.809A>T

4 papers

NM_002542.6

p.D268E

c.804T>A

4 papers

NM_002542.6

p.D268E

c.804T>G

2 papers

NM_002542.6

p.D268A

c.803A>C

5 papers

NM_002542.6

p.D268N

c.802G>A

1 paper

NM_002542.6

p.W272*

c.815G>A

1 paper

NM_002542.6

p.H273Y

c.817C>T

3 papers

NM_002542.6

p.V267M

c.799G>A

1 paper

NM_002542.6

p.P266L

c.797C>T

1 paper

NM_002542.6

p.I274fs

c.820_821fs

1 paper

NM_002542.6

p.Q263H

c.789G>C