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.S1169S

c.3507C>T

Surrounding Variants

1 paper

NM_001159.4

p.S1169C

c.3506C>G

3 papers

NM_001159.4

p.E1170K

c.3508G>A

1 paper

NM_001159.4

p.D1174H

c.3520G>C

1 paper

NM_001159.4

p.G1165R

c.3493G>A

1 paper

NM_001159.4

p.G1165R

c.3493G>C

1 paper

NM_001159.4

p.F1162S

c.3485T>C

2 papers

NM_001159.4

p.E1160K

c.3478G>A

1 paper

NM_001159.4

p.Q1157K

c.3469C>A

1 paper

NM_001159.4

p.D1148Y

c.3442G>T

1 paper

NM_001159.4

p.S1147S

c.3441A>T

1 paper

NM_001159.4

p.S1147A

c.3439T>G

1 paper

NM_001159.4

p.E1146*

c.3436G>T