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

1–12 of 371 variants

14 papers

NM_001159.4

p.N1135S

c.3404A>G

10 papers

NM_001159.4

p.H1297R

c.3890A>G

5 papers

NM_001159.4

p.T53I

c.158C>T

5 papers

NM_001159.4

p.L438V

c.1312C>G

5 papers

NM_001159.4

p.A507V

c.1520C>T

5 papers

NM_001159.4

p.T755I

c.2264C>T

5 papers

NM_001159.4

p.S1271L

c.3812C>T

4 papers

NM_001159.4

p.I471T

c.1412T>C

4 papers

NM_001159.4

p.V800V

c.2400A>G

4 papers

NM_001159.4

p.Q966*

c.2896C>T

4 papers

NM_001159.4

p.R1231H

c.3692G>A

3 papers

NM_001159.4

p.S230S

c.690G>A