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.V3ins1

c.8_9insTGA

Surrounding Variants

1 paper

NM_016931.5

p.V3_S4ins1

c.9_10insGAG

1 paper

NM_016931.5

p.M1T

c.2T>C

1 paper

NM_016931.5

p.S7R

c.21C>G

1 paper

NM_016931.5

p.W8_L9insTGA

c.22_26ins9

1 paper

NM_016931.5

p.W8*

c.24G>A

1 paper

NM_016931.5

p.L9_A10insGAG

c.25_29ins9

1 paper

NM_016931.5

p.E12E

c.36A>G

1 paper

NM_016931.5

p.L19_F20Splc

c.58-7G>A

1 paper

NM_016931.5

p.I21I

c.63C>T

1 paper

NM_016931.5

p.W22ins1

c.65_66insATT

1 paper

NM_016931.5

p.L23F

c.67C>T

1 paper

NM_016931.5

p.S24T

c.70T>A