Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.R105Q
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NCF4

NM_000631.5:p.R105Q

Associated Papers

Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.

Iengar P et al.

Computational Biology and Chemistry, 2026

Hepatosplenic abscesses in a child with p40phox deficiency due to a homozygous NCF4 variant.

Chakkyar K et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2025

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Top_priority

NCF4 dependent intracellular reactive oxygen species regulate plasma cell formation.

He C et al.

Redox Biology, 2022

Recent advances in chronic granulomatous disease.

Anjani G et al.

Genes & Diseases, 2020

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

van de Geer A et al.

The Journal of Clinical Investigation, 2018

PI(3)P-p40phox binding regulates NADPH oxidase activation in mouse macrophages and magnitude of inflammatory responses in vivo.

Bagaitkar J et al.

Journal of Leukocyte Biology, 2017

A Reduction in Intracellular Reactive Oxygen Species Due to a Mutation in NCF4 Promotes Autoimmune Arthritis in Mice.

Winter S et al.

Antioxidants & Redox Signaling, 2016

A role for NADPH oxidase in antigen presentation.

Gardiner GJ et al.

Frontiers in Immunology, 2013

Cutting edge: NADPH oxidase modulates MHC class II antigen presentation by B cells.

Crotzer VL et al.

Journal of Immunology (baltimore, Md. : 1950), 2012

The human NADPH oxidase: primary and secondary defects impairing the respiratory burst function and the microbicidal ability of phagocytes.

de Oliveira-Junior EB et al.

Scandinavian Journal of Immunology, 2011

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.

Matute JD et al.

Blood, 2009

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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."