Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.A128V
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NCF2

NM_000433.4:p.A128V

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

The molecular basis of Rac-GTP action-promoting binding of p67phox to Nox2 by disengaging the β hairpin from downstream residues.

Bechor E et al.

Journal of Leukocyte Biology, 2021

Arachidonic acid induces direct interaction of the p67(phox)-Rac complex with the phagocyte oxidase Nox2, leading to superoxide production.

Matono R et al.

The Journal of Biological Chemistry, 2014

P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD).

Roesler J et al.

Plos One, 2012

Versatile TPR domains accommodate different modes of target protein recognition and function.

Allan RK et al.

Cell Stress & Chaperones, 2011

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.

Köker MY et al.

European Journal of Clinical Investigation, 2009

Structural and functional characterization of human SGT and its interaction with Vpu of the human immunodeficiency virus type 1.

Dutta S et al.

Biochemistry, 2008

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

Tetratricopeptide repeats in the type III secretion chaperone, LcrH: their role in substrate binding and secretion.

Edqvist PJ et al.

Molecular Microbiology, 2006

PB1 domain-mediated heterodimerization in NADPH oxidase and signaling complexes of atypical protein kinase C with Par6 and p62.

Wilson MI et al.

Molecular Cell, 2003

The active N-terminal region of p67phox. Structure at 1.8 A resolution and biochemical characterizations of the A128V mutant implicated in chronic granulomatous disease.

Grizot S et al.

The Journal of Biological Chemistry, 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."