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

4 papers

NM_007052.5

p.T497A

c.1489A>G

Surrounding Variants

1 paper

NM_007052.5

p.A486V

c.1457C>T

1 paper

NM_007052.5

p.H521D

c.1561C>G

1 paper

NM_007052.5

p.I481_V482Splc

c.1444-73T>C

1 paper

NM_007052.5

p.I481_V482Splc

c.1444-74A>G

1 paper

NM_007052.5

p.L474R

c.1421T>G

1 paper

NM_007052.5

p.R471C

c.1411C>T

2 papers

NM_007052.5

p.Y470H

c.1408T>C

1 paper

NM_007052.5

p.T442A

c.1324A>G

1 paper

NM_007052.5

p.K432_I433Splc

c.1297-73T>C

1 paper

NM_007052.5

p.A424S

c.1270G>T

1 paper

NM_007052.5

p.G402G

c.1206A>T

1 paper

NM_007052.5

p.V392I

c.1174G>A