Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.R38Q
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NCF2

NM_000433.4:p.R38Q

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.

Denson LA et al.

Gastroenterology, 2018

Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (NCF2) Gene Mutations in Three Unrelated Families.

Vignesh P et al.

Journal of Clinical Immunology, 2017

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease.

Dhillon SS et al.

Gastroenterology, 2014

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2.

Muise AM et al.

Gut, 2012

Linking risk conferring mutations in NCF4 to functional consequences in Crohn's disease.

Somasundaram R et al.

Gut, 2012

Tetratricopeptide repeat (TPR) motifs of p67(phox) participate in interaction with the small GTPase Rac and activation of the phagocyte NADPH oxidase.

Koga H et al.

The Journal of Biological Chemistry, 1999

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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."