Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.R90L
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NCF1

NM_000265.7:p.R90L

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

NH2 terminus of serum and glucocorticoid-regulated kinase 1 binds to phosphoinositides and is essential for isoform-specific physiological functions.

Pao AC et al.

American Journal of Physiology. Renal Physiology, 2007

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."