Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.R42Q
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NCF1

NM_000265.7:p.R42Q

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Lyn

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Lyn

Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing.

Hsu AP et al.

Frontiers in Immunology, 2025

p47phox Phox homology domain regulates plasma membrane but not phagosome neutrophil NADPH oxidase activation.

Li XJ et al.

The Journal of Biological Chemistry, 2010

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.

Roos D et al.

Human Mutation, 2006

Chronic granulomatous disease mutations and the PX domain.

Heyworth PG et al.

Nature Cell Biology, 2002

The crystal structure of the PX domain from p40(phox) bound to phosphatidylinositol 3-phosphate.

Bravo J et al.

Molecular Cell, 2001

The PX domains of p47phox and p40phox bind to lipid products of PI(3)K.

Kanai F et al.

Nature Cell Biology, 2001

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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."