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

2 papers

NM_007052.5

p.D37N

c.109G>A

Surrounding Variants

1 paper

NM_007052.5

p.A36V

c.107C>T

1 paper

NM_007052.5

p.Y41D

c.121T>G

1 paper

NM_007052.5

p.K32R

c.95A>G

1 paper

NM_007052.5

p.L31L

c.93G>A

1 paper

NM_007052.5

p.K44K

c.132A>G

2 papers

NM_007052.5

p.A29T

c.85G>A

1 paper

NM_007052.5

p.W18C

c.54G>T

1 paper

NM_007052.5

p.W18C

c.54G>C

1 paper

NM_007052.5

p.G2E

c.5G>A

1 paper

NM_007052.5

p.G47_S48Splc

c.142-4G>A

1 paper

NM_007052.5

p.A53T

c.157G>A

1 paper

NM_007052.5

p.A53D

c.158C>A