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

3 papers

NM_001159.4

p.G815R

c.2443G>C

Surrounding Variants

3 papers

NM_001159.4

p.G815R

c.2443G>A

1 paper

NM_001159.4

p.G815fs

c.2443_2444fs

1 paper

NM_001159.4

p.T814T

c.2442C>T

1 paper

NM_001159.4

p.G815delFs

c.2443delG

1 paper

NM_001159.4

p.A806A

c.2418G>A

1 paper

NM_001159.4

p.A806V

c.2417C>T

1 paper

NM_001159.4

p.A806T

c.2416G>A

1 paper

NM_001159.4

p.A825T

c.2473G>A

1 paper

NM_001159.4

p.K827T

c.2480A>C

2 papers

NM_001159.4

p.R802H

c.2405G>A

2 papers

NM_001159.4

p.R802C

c.2404C>T

4 papers

NM_001159.4

p.V800V

c.2400A>G