Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.H101Y
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CYBB

NM_000397.4:p.H101Y

Associated Papers

Structure of the core human NADPH oxidase NOX2.

Noreng S et al.

Nature Communications, 2022

36241643 (PubMed )
Supplement: 41467_2022_33711_MOESM1_ESM.pdf

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Identification of NOX2 regions for normal biosynthesis of cytochrome b558 in phagocytes highlighting essential residues for p22phox binding.

Beaumel S et al.

The Biochemical Journal, 2014

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

Heme-ligating histidines in flavocytochrome b(558): identification of specific histidines in gp91(phox).

Biberstine-Kinkade KJ et al.

The Journal of Biological Chemistry, 2001

Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease.

Kaneda M et al.

Blood, 1999

[Chronic granulomatous disease (CGD)].

Shibata A

Ryoikibetsu Shokogun Shirizu, 1998

[Chronic granulomatous disease (CGD)].

Takikawa K et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977

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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."