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

5 papers

NM_001159.4

p.T755I

c.2264C>T

Surrounding Variants

1 paper

NM_001159.4

p.S757I

c.2270G>T

1 paper

NM_001159.4

p.V761I

c.2281G>A

2 papers

NM_001159.4

p.P762L

c.2285C>T

2 papers

NM_001159.4

p.K763R

c.2288A>G

1 paper

NM_001159.4

p.G746V

c.2237G>T

1 paper

NM_001159.4

p.M745I

c.2235G>A

1 paper

NM_001159.4

p.M745I

c.2235G>C

1 paper

NM_001159.4

p.M745I

c.2235G>T

1 paper

NM_001159.4

p.H744R

c.2231A>G

1 paper

NM_001159.4

p.I743insFs

c.2229dupA

1 paper

NM_001159.4

p.I743fs

c.2227_2228fs

1 paper

NM_001159.4

p.G741D

c.2222G>A