Varaico: Literature-Extracted Genetic Variants

NOX4

106 papers

RefSeq Summary

This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an ...

Pfam Domains

Ferric_reductaa 59–205UCSCFerric reductase like transmembrane component

FAD_binding_8aa 306–417UCSCFAD-binding domain

NAD_binding_6aa 423–561UCSCFerric reductase NAD binding domain

Gene Aliases

HGNC Name

NADPH oxidase 4

HGNC Alias Symbols

KOX-1; KOX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016931.5

p.S313L

c.938C>T

Surrounding Variants

2 papers

NM_016931.5

p.M315I

c.945G>T

2 papers

NM_016931.5

p.M315I

c.945G>C

2 papers

NM_016931.5

p.M315I

c.945G>A

1 paper

NM_016931.5

p.V321L

c.961G>C

1 paper

NM_016931.5

p.N330Y

c.988A>T

1 paper

NM_001291929.2

p.L316P

c.947T>C

1 paper

NM_016931.5

p.Q282*

c.844C>T

1 paper

NM_016931.5

p.S256*

c.767C>G

1 paper

NM_016931.5

p.S256*

c.767C>A

1 paper

NM_016931.5

p.P240S

c.718C>T

1 paper

NM_016931.5

p.S238Y

c.713C>A

1 paper

NM_016931.5

p.P224P

c.672C>T