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

3 papers

NM_002542.6

p.K341R

c.1022A>G

Surrounding Variants

1 paper

NM_002542.6

p.K341_G342delFs

c.1023_1024delAG

1 paper

NM_002542.6

p.P343L

c.1028C>T

1 paper

NM_002542.6

p.K338N

c.1014G>C

1 paper

NM_002542.6

p.K338R

c.1013A>G

2 papers

NM_002542.6

p.R336H

c.1007G>A

1 paper

NM_002542.6

p.P333delFs

c.998delC

9 papers

NM_002542.6

p.P332A

c.994C>G

1 paper

NM_002542.6

p.E331G

c.992A>G

1 paper

NM_002542.6

p.Q330*

c.988C>T

1 paper

NM_002542.6

p.A329_Q330delFs

c.987_988delTC

1 paper

NM_002542.6

p.R327C

c.979C>T

690 papers

NM_002542.6

p.S326C

c.977C>G

NM_016820.4

p.P332A

c.994C>G

NM_016828.3

p.A316_L317Splc

c.948+273C>G