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

1–12 of 82 variants

2 papers

NM_016931.5

p.S91C

c.271A>T

2 papers

NM_016931.5

p.S91G

c.271A>G

2 papers

NM_016931.5

p.L97F

c.291G>T

2 papers

NM_016931.5

p.L97F

c.291G>C

2 papers

NM_016931.5

p.M174T

c.521T>C

2 papers

NM_016931.5

p.H222Q

c.666C>G

2 papers

NM_016931.5

p.H222Q

c.666C>A

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

2 papers

NM_016931.5

p.Y512C

c.1535A>G

1 paper

NM_016931.5

p.M1T

c.2T>C