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.G1269R

c.3805G>C

Surrounding Variants

3 papers

NM_001159.4

p.G1269R

c.3805G>A

5 papers

NM_001159.4

p.S1271L

c.3812C>T

1 paper

NM_001159.4

p.G1272A

c.3815G>C

1 paper

NM_001159.4

p.R1291*

c.3871C>T

1 paper

NM_001159.4

p.G1295G

c.3885C>T

10 papers

NM_001159.4

p.H1297R

c.3890A>G

1 paper

NM_001159.4

p.P1299T

c.3895C>A

1 paper

NM_001159.4

p.T1320K

c.3959C>A

2 papers

NM_001159.4

p.S1264S

c.3792A>G

1 paper

NM_001159.4

p.S1259L

c.3776C>T

2 papers

NM_001159.4

p.T1246M

c.3737C>T

2 papers

NM_001159.4

p.P1245P

c.3735C>T