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.L73F

c.219A>C

Surrounding Variants

1 paper

NM_016931.5

p.L73F

c.219A>T

1 paper

NM_016931.5

p.M75T

c.224T>C

1 paper

NM_016931.5

p.L72F

c.214C>T

1 paper

NM_016931.5

p.A81V

c.242C>T

1 paper

NM_016931.5

p.N65N

c.195C>T

1 paper

NM_016931.5

p.N65_L66insATT

c.193_197ins9

1 paper

NM_016931.5

p.Q87H

c.261G>T

1 paper

NM_016931.5

p.Q87H

c.261G>C

1 paper

NM_016931.5

p.R58G

c.172A>G

1 paper

NM_016931.5

p.L56L

c.166C>T

1 paper

NM_016931.5

p.L52L

c.156A>T

2 papers

NM_016931.5

p.S91C

c.271A>T