Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R499H
Back to variants list

PCSK9

NM_174936.4:p.R499H

Associated Papers

Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes.

Noerenberg D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2024

38055913 (PubMed )
Supplement: DS3_JCO.23.01053.xlsx › Table_S2.7

Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil.

Galvão Lopes V et al.

Journal of Biomolecular Structure & Dynamics, 2023

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Razman AZ et al.

International Journal of Molecular Sciences, 2022

Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Sarkar SK et al.

Frontiers in Physiology, 2022

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Xia XD et al.

Frontiers in Cardiovascular Medicine, 2021

Proprotein Convertase Subtilisin/Kexin-Type 9 and Lipid Metabolism.

Guo S et al.

Advances in Experimental Medicine and Biology, 2020

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.

Sánchez-Hernández RM et al.

Atherosclerosis, 2019

The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.

Sánchez-Hernández RM et al.

Journal of Clinical Lipidology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."