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.Q229Q

c.687G>A

Surrounding Variants

1 paper

NM_001159.4

p.S230L

c.689C>T

3 papers

NM_001159.4

p.S230S

c.690G>A

1 paper

NM_001159.4

p.A226V

c.677C>T

1 paper

NM_001159.4

p.M225R

c.674T>G

1 paper

NM_001159.4

p.R234M

c.701G>T

1 paper

NM_001159.4

p.G237G

c.711C>T

1 paper

NM_001159.4

p.E239D

c.717G>C

1 paper

NM_001159.4

p.E239D

c.717G>T

1 paper

NM_001159.4

p.R240G

c.718A>G

2 papers

NM_001159.4

p.M241delFs

c.722delT

2 papers

NM_001159.4

p.F244Y

c.731T>A

1 paper

NM_001159.4

p.K250N

c.750G>C