Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.K55E
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NCF1

NM_000265.7:p.K55E

Associated Papers

Atypical membrane-embedded phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2)-binding site on p47(phox) Phox homology (PX) domain revealed by NMR.

Stampoulis P et al.

The Journal of Biological Chemistry, 2012

Activation of the superoxide-producing phagocyte NADPH oxidase requires co-operation between the tandem SH3 domains of p47phox in recognition of a polyproline type II helix and an adjacent alpha-helix of p22phox.

Nobuhisa I et al.

The Biochemical Journal, 2006

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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."