Varaico: Literature-Extracted Genetic Variants

Gene:NOX4
Variant:p.M174T

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
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
2 papers
NM_016931.5
p.M174T
c.521T>C
Surrounding Variants
1 paper
NM_016931.5
p.V159Splc
c.475+5G>T
1 paper
NM_016931.5
p.T158delFs
c.472delT
1 paper
NM_016931.5
p.R152I
c.455G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."