Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.V81D
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NPC2

NM_006432.5:p.V81D

Associated Papers

Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cells.

Kennedy BE et al.

The Journal of Biological Chemistry, 2014

Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1.

Kennedy BE et al.

Journal of Lipid Research, 2012

Identification of surface residues on Niemann-Pick C2 essential for hydrophobic handoff of cholesterol to NPC1 in lysosomes.

Wang ML et al.

Cell Metabolism, 2010

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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."