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.S374P

c.1120T>C

Surrounding Variants

1 paper

NM_007052.5

p.R378Splc

c.1133+1G>A

1 paper

NM_007052.5

p.N364S

c.1091A>G

7 papers

NM_007052.5

p.D360N

c.1078G>A

1 paper

NM_007052.5

p.G359A

c.1076G>C

1 paper

NM_007052.5

p.R356*

c.1066C>T

1 paper

NM_007052.5

p.H354R

c.1061A>G

1 paper

NM_007052.5

p.A345D

c.1034C>A

2 papers

NM_007052.5

p.P339H

c.1016C>A

1 paper

NM_007052.5

p.H338R

c.1013A>G

1 paper

NM_007052.5

p.H338Y

c.1012C>T

1 paper

NM_007052.5

p.L334F

c.1000C>T

5 papers

NM_007052.5

p.P330S

c.988C>T