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

2 papers

NM_001159.4

p.G46E

c.137G>A

Surrounding Variants

1 paper

NM_001159.4

p.G47insFs

c.140_141insG

1 paper

NM_001159.4

p.G47_G48insFs

c.141_142insG

1 paper

NM_001159.4

p.C44W

c.132T>G

1 paper

NM_001159.4

p.G48V

c.143G>T

2 papers

NM_001159.4

p.G50D

c.149G>A

1 paper

NM_001159.4

p.Y42N

c.124T>A

1 paper

NM_001159.4

p.K41R

c.122A>G

1 paper

NM_001159.4

p.A51D

c.152C>A

1 paper

NM_001159.4

p.C52G

c.154T>G

1 paper

NM_001159.4

p.G39G

c.117A>G

1 paper

NM_001159.4

p.T53K

c.158C>A

5 papers

NM_001159.4

p.T53I

c.158C>T