Variant ID: 1-55518081-A-T

NM_174936.3(PCSK9):c.654A>T;(p.Arg218Ser)

This variant was identified in 19 publications




Publications:


Fragment-based design of small molecule PCSK9 inhibitors using simulated annealing of chemical potential simulations.

Plos One
F Guarnieri, JL Kulp, JL Kulp, IS Cloudsdale
Publication Date: 2019

Variant appearance in text: PCSK9: R218S
PMID: 31805108
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Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Z Eroğlu, A Tetik Vardarlı, Z Düzgün, C Gündüz, V Bozok Çetintaş, M Kayıkçıoğlu
Publication Date: 2018-05

Variant appearance in text: PCSK9: R218S
PMID: 29724976
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The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice
NG Seidah
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: R218S
PMID: 28971102
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PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
PY Zhang
Publication Date: 2017-03

Variant appearance in text: PCSK9: R218S
PMID: 28450903
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Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic Research In Cardiology
S Glerup, R Schulz, U Laufs, KD Schlüter
Publication Date: 2017-05

Variant appearance in text: PCSK9: R218S
PMID: 28439730
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Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular Genetics And Metabolism Reports
L Wierød, J Cameron, TB Strøm, TP Leren
Publication Date: 2016-12

Variant appearance in text: PCSK9: R218S
PMID: 27896130
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An Unbiased Mass Spectrometry Approach Identifies Glypican-3 as an Interactor of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR) in Hepatocellular Carcinoma Cells.

The Journal Of Biological Chemistry
K Ly, R Essalmani, R Desjardins, NG Seidah, R Day
Publication Date: 2016-11-18

Variant appearance in text: PCSK9: R218S
PMID: 27758865
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Proteolytic cleavage of antigen extends the durability of an anti-PCSK9 monoclonal antibody.

Journal Of Lipid Research
KM Schroeder, TP Beyer, RJ Hansen, B Han, RT Pickard, VJ Wroblewski, MC Kowala, PI Eacho
Publication Date: 2015-11

Variant appearance in text: PCSK9: R218S
PMID: 26392590
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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
Publication Date: 2015-12

Variant appearance in text: PCSK9: Arg218Ser
PMID: 26374825
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Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: R218S
PMID: 26195630
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Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

The Journal Of Biological Chemistry
K Ly, YG Saavedra, M Canuel, S Routhier, R Desjardins, J Hamelin, J Mayne, C Lazure, NG Seidah, R Day
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: R218S
PMID: 24808179
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Isolation and characterization of the circulating truncated form of PCSK9.

Journal Of Lipid Research
B Han, PI Eacho, MD Knierman, JS Troutt, RJ Konrad, X Yu, KM Schroeder
Publication Date: 2014-07

Variant appearance in text: PCSK9: R218S
PMID: 24776539
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The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

Biomed Research International
ER de Almeida, EM Reiche, AP Kallaur, T Flauzino, MA Watanabe
Publication Date: 2013

Variant appearance in text: PCSK9: Arg218Ser
PMID: 24319689
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The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Drug Design, Development And Therapy
S Poirier, G Mayer
Publication Date: 2013

Variant appearance in text: PCSK9: R218S
PMID: 24115837
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Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

The Journal Of Biological Chemistry
MT Lipari, W Li, P Moran, M Kong-Beltran, T Sai, J Lai, SJ Lin, G Kolumam, J Zavala-Solorio, A Izrael-Tomasevic, D Arnott, J Wang, AS Peterson, D Kirchhofer
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R218S
PMID: 23135270
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The PCSK9 decade.

Journal Of Lipid Research
G Lambert, B Sjouke, B Choque, JJ Kastelein, GK Hovingh
Publication Date: 2012-12

Variant appearance in text: PCSK9: R218S
PMID: 22811413
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In vivo evidence that furin from hepatocytes inactivates PCSK9.

The Journal Of Biological Chemistry
R Essalmani, D Susan-Resiga, A Chamberland, M Abifadel, JW Creemers, C Boileau, NG Seidah, A Prat
Publication Date: 2011-02-11

Variant appearance in text: PCSK9: R218S
PMID: 21147780
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Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: R218S
PMID: 20937814
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Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: R218S
PMID: 18197702
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.654A>T p.Arg218Ser missense_variant 4/12 -
ENST00000452118.2 c.*298A>T - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1475A>T - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.54A>T p.Arg18Ser missense_variant 2/10 -
NM_174936.4 c.654A>T p.Arg218Ser missense_variant 4/12 -
NR_110451.1 n.313A>T - non_coding_transcript_exon_variant 2/10 -