Varaico: Literature-Extracted Genetic Variants

AOX1

221 papers

RefSeq Summary

Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided b...

Pfam Domains

Fer2aa 9–79UCSC2Fe-2S iron-sulfur cluster binding domain

Fer2_2aa 88–162UCSC[2Fe-2S] binding domain

FAD_binding_5aa 236–419UCSCFAD binding domain in molybdopterin dehydrogenase

CO_deh_flav_Caa 426–530UCSCCO dehydrogenase flavoprotein C-terminal domain

Ald_Xan_dh_Caa 594–701UCSCAldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain

MoCoBD_1aa 707–955UCSCMolybdopterin cofactor-binding domain

Gene Aliases

HGNC Name

aldehyde oxidase 1

HGNC Alias Symbols

AO; AOH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001159.4

p.G450_D453delFs

c.1348_1357del10

Surrounding Variants

1 paper

NM_001159.4

p.M445I

c.1335G>A

1 paper

NM_001159.4

p.M445I

c.1335G>C

1 paper

NM_001159.4

p.M445I

c.1335G>T

1 paper

NM_001159.4

p.M445_F448del4

c.1333_1343del12

1 paper

NM_001159.4

p.E458D

c.1374G>C

1 paper

NM_001159.4

p.E458D

c.1374G>T

1 paper

NM_001159.4

p.A439A

c.1317G>A

3 papers

NM_001159.4

p.A439E

c.1316C>A

1 paper

NM_001159.4

p.C460*

c.1380C>A

2 papers

NM_001159.4

p.L438insFs

c.1313_1314insG

5 papers

NM_001159.4

p.L438V

c.1312C>G

1 paper

NM_001159.4

p.I461I

c.1383C>T