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.R315C

c.943C>T

Surrounding Variants

3 papers

NM_007052.5

p.R315H

c.944G>A

2 papers

NM_007052.5

p.E309K

c.925G>A

1 paper

NM_007052.5

p.G322E

c.965G>A

2 papers

NM_007052.5

p.I325F

c.973A>T

1 paper

NM_007052.5

p.P304R

c.911C>G

1 paper

NM_007052.5

p.F326fs

c.976_977fs

2 papers

NM_007052.5

p.H303Y

c.907C>T

1 paper

NM_007052.5

p.H303N

c.907C>A

5 papers

NM_007052.5

p.P330S

c.988C>T

1 paper

NM_007052.5

p.L334F

c.1000C>T

1 paper

NM_007052.5

p.H338Y

c.1012C>T

1 paper

NM_007052.5

p.H338R

c.1013A>G