Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.Y38F
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PCSK9

NM_174936.4:p.Y38F

Associated Papers

A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

Sarkar SK et al.

The Journal of Biological Chemistry, 2020

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.

Abifadel M et al.

Atherosclerosis, 2012

Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels.

Mayer G et al.

The Journal of Biological Chemistry, 2008

PCSK9 is phosphorylated by a Golgi casein kinase-like kinase ex vivo and circulates as a phosphoprotein in humans.

Dewpura T et al.

The Febs Journal, 2008

The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications.

Benjannet S et al.

The Journal of Biological Chemistry, 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."