Varaico: Literature-Extracted Genetic Variants

Gene:PCSK7
Variant:p.R504H
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PCSK7

NM_004716.4:p.R504H

Associated Papers

Regulation of secretory pathway kinase or kinase-like proteins in human cancers.

Du S et al.

Frontiers in Immunology, 2023

Proprotein convertase 7 (PCSK7) reduces apoA-V levels.

Ashraf Y et al.

The Febs Journal, 2020

The motif EXEXXXL in the cytosolic tail of the secretory human proprotein convertase PC7 regulates its trafficking and cleavage activity.

Durand L et al.

The Journal of Biological Chemistry, 2020

PCSK7 gene variation bridges atherogenic dyslipidemia with hepatic inflammation in NAFLD patients.

Dongiovanni P et al.

Journal of Lipid Research, 2019

Insights into blood lipids from rare variant discovery.

Schmidt EM et al.

Current Opinion in Genetics & Development, 2015

Rare and low-frequency variants in human common diseases and other complex traits.

Lettre G

Journal of Medical Genetics, 2014

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Peloso GM et al.

American Journal of Human Genetics, 2014

Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

Guillemot J et al.

Febs Open Bio, 2014

The ABCs of the atypical Fam20 secretory pathway kinases.

Worby CA et al.

The Journal of Biological Chemistry, 0

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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."