Varaico: Literature-Extracted Genetic Variants

NOX1

87 papers

RefSeq Summary

This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced trans...

Pfam Domains

Ferric_reductaa 41–182UCSCFerric reductase like transmembrane component

Ferric_reductaa 64–219UCSCFerric reductase like transmembrane component

FAD_binding_8aa 292–389UCSCFAD-binding domain

NAD_binding_6aa 395–545UCSCFerric reductase NAD binding domain

Gene Aliases

HGNC Name

NADPH oxidase 1

HGNC Alias Symbols

NOH1; NOH-1; MOX1; GP91-2; NOH-1L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 89 variants

7 papers

NM_007052.5

p.D360N

c.1078G>A

5 papers

NM_007052.5

p.P330S

c.988C>T

4 papers

NM_007052.5

p.N122H

c.364A>C

4 papers

NM_007052.5

p.V165M

c.493G>A

4 papers

NM_007052.5

p.T497A

c.1489A>G

3 papers

NM_007052.5

p.R315H

c.944G>A

2 papers

NM_007052.5

p.A29T

c.85G>A

2 papers

NM_007052.5

p.D37N

c.109G>A

2 papers

NM_007052.5

p.R54*

c.160C>T

2 papers

NM_007052.5

p.I67M

c.201C>G

2 papers

NM_007052.5

p.C72R

c.214T>C

2 papers

NM_007052.5

p.H101Y

c.301C>T