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

4 papers

NM_001159.4

p.R1231H

c.3692G>A

Surrounding Variants

1 paper

NM_001159.4

p.T1230A

c.3688A>G

2 papers

NM_001159.4

p.K1237N

c.3711A>C

2 papers

NM_001159.4

p.K1237N

c.3711A>T

1 paper

NM_001159.4

p.I1217L

c.3649A>C

1 paper

NM_001159.4

p.I1217L

c.3649A>T

2 papers

NM_001159.4

p.P1245P

c.3735C>T

2 papers

NM_001159.4

p.T1246M

c.3737C>T

1 paper

NM_001159.4

p.Y1215Y

c.3645T>C

2 papers

NM_001159.4

p.Y1215H

c.3643T>C

2 papers

NM_001159.4

p.G1213E

c.3638G>A

1 paper

NM_001159.4

p.G1206_M1212delFs

c.3618_3634del17

1 paper

NM_001159.4

p.G1206_M1212del7

c.3616_3635del21