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

Selected Variant

1 paper

NM_007052.5

p.A132G

c.395C>G

Surrounding Variants

2 papers

NM_007052.5

p.R130Q

c.389G>A

1 paper

NM_007052.5

p.N122T

c.365A>C

4 papers

NM_007052.5

p.N122H

c.364A>C

1 paper

NM_007052.5

p.K150insFs

c.449dupA

1 paper

NM_007052.5

p.S153fs

c.457_458fs

1 paper

NM_007052.5

p.R161*

c.481C>T

4 papers

NM_007052.5

p.V165M

c.493G>A

1 paper

NM_007052.5

p.M188T

c.563T>C

1 paper

NM_007052.5

p.R197Q

c.590G>A

1 paper

NM_001271815.2

p.V166D

c.497T>A

1 paper

NM_007052.5

p.G222D

c.665G>A

1 paper

NM_007052.5

p.M107R

c.320T>G