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.F100L

c.298T>C

Surrounding Variants

1 paper

NM_007052.5

p.F100L

c.300C>G

1 paper

NM_007052.5

p.F100L

c.300C>A

2 papers

NM_007052.5

p.H101Y

c.301C>T

1 paper

NM_007052.5

p.M107R

c.320T>G

1 paper

NM_007052.5

p.R88C

c.262C>T

1 paper

NM_007052.5

p.G81V

c.242G>T

2 papers

NM_007052.5

p.C72R

c.214T>C

2 papers

NM_007052.5

p.I67M

c.201C>G

1 paper

NM_007052.5

p.L66L

c.196C>T

1 paper

NM_007052.5

p.C59F

c.176G>T

2 papers

NM_007052.5

p.R54*

c.160C>T

1 paper

NM_007052.5

p.R54G

c.160C>G