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.E487K

c.1459G>A

Surrounding Variants

1 paper

NM_001159.4

p.W485L

c.1454G>T

1 paper

NM_001159.4

p.M489I

c.1467G>A

1 paper

NM_001159.4

p.M489I

c.1467G>C

1 paper

NM_001159.4

p.M489I

c.1467G>T

1 paper

NM_001159.4

p.R483R

c.1449G>A

1 paper

NM_001159.4

p.R483Splc

c.1449-5T>C

1 paper

NM_001159.4

p.A493G

c.1478C>G

1 paper

NM_001159.4

p.A493V

c.1478C>T

1 paper

NM_001159.4

p.L498M

c.1492C>A

1 paper

NM_001159.4

p.N499N

c.1497T>C

1 paper

NM_001159.4

p.L503V

c.1507C>G

2 papers

NM_001159.4

p.S506L

c.1517C>T