Variant ID: 1-55518073-T-C

NM_174936.3(PCSK9):c.646T>C;(p.F216L)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

International Journal Of Molecular Sciences
Grewal, Thomas T; Buechler, Christa C
Publication Date: 2022-01-19

Variant appearance in text: N/A
PubMed Link: 35162992
Variant Present in the following documents:
View BVdb publication page



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

Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 34782856
Variant Present in the following documents:
View BVdb publication page



The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Journal Of Lipid Research
Seidah, Nabil G NG
Publication Date: 2021-10-01

Variant appearance in text: N/A
PubMed Link: 34606887
Variant Present in the following documents:
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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: PCSK9: F216L; rs28942112
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
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PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: PCSK9: F216L
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart
Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-07

Variant appearance in text: PCSK9: 646T>C; Phe216Leu; rs28942112
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx
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PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences
Barale, Cristina C; Melchionda, Elena E; Morotti, Alessandro A; Russo, Isabella I
Publication Date: 2021-05-30

Variant appearance in text: PCSK9: F216L
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted Therapy in Cardiovascular Disease: A Precision Therapy Era.

Frontiers In Pharmacology
Xu, Mengda M; Song, Jiangping J
Publication Date: 2021

Variant appearance in text: PCSK9: F216L
PubMed Link: 33935716
Variant Present in the following documents:
  • Main text
  • fphar-12-623674.pdf
View BVdb publication page



PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Frontiers In Cardiovascular Medicine
Li, Yan-Yan YY; Wang, Hui H; Yang, Xin-Xing XX; Geng, Hong-Yu HY; Gong, Ge G; Lu, Xin-Zheng XZ
Publication Date: 2020

Variant appearance in text: PCSK9: F216L
PubMed Link: 33244470
Variant Present in the following documents:
  • Main text
  • fcvm-07-582865.pdf
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: PCSK9: F216L
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
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In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.

International Journal Of Molecular Sciences
Martin, William R WR; Lightstone, Felice C FC; Cheng, Feixiong F
Publication Date: 2020-02-25

Variant appearance in text: PCSK9: Phe216Leu
PubMed Link: 32106405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Cardiovascular Research
Seidah, Nabil G NG; Prat, Annik A; Pirillo, Angela A; Catapano, Alberico Luigi AL; Norata, Giuseppe Danilo GD
Publication Date: 2019-03-01

Variant appearance in text: PCSK9: F216L
PubMed Link: 30629143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Eroğlu, Zuhal Z; Tetik Vardarlı, Aslı A; Düzgün, Zekeriya Z; Gündüz, Cumhur C; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M
Publication Date: 2018-05

Variant appearance in text: PCSK9: F216L; rs28942112
PubMed Link: 29724976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: F216L
PubMed Link: 29259136
Variant Present in the following documents:
  • Main text
View BVdb publication page



The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

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

Variant appearance in text: N/A
PubMed Link: 28971102
Variant Present in the following documents:
View BVdb publication page



PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Kaya, Esra E; Kayıkçıoğlu, Meral M; Tetik Vardarlı, Aslı A; Eroğlu, Zuhal Z; Payzın, Serdar S; Can, Levent L
Publication Date: 2017-10

Variant appearance in text: PCSK9: F216L; rs28942112
PubMed Link: 28777095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic Research In Cardiology
Glerup, Simon S; Schulz, Rainer R; Laufs, Ulrich U; Schlüter, Klaus-Dieter KD
Publication Date: 2017-05

Variant appearance in text: N/A
PubMed Link: 28439730
Variant Present in the following documents:
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The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
Kessler, Thorsten T; Vilne, Baiba B; Schunkert, Heribert H
Publication Date: 2016-07

Variant appearance in text: PCSK9: F216L
PubMed Link: 27189168
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Hopkins, Paul N PN; Defesche, Joep J; Fouchier, Sigrid W SW; Bruckert, Eric E; Luc, Gérald G; Cariou, Bertrand B; Sjouke, Barbara B; Leren, Trond P TP; Harada-Shiba, Mariko M; Mabuchi, Hiroshi H; Rabès, Jean-Pierre JP; Carrié, Alain A; van Heyningen, Charles C; Carreau, Valérie V; Farnier, Michel M; Teoh, Yee P YP; Bourbon, Mafalda M; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Soran, Handrean H; Marais, A David AD; Tada, Hayato H; Abifadel, Marianne M; Boileau, Catherine C; Chanu, Bernard B; Katsuda, Shoji S; Kishimoto, Ichiro I; Lambert, Gilles G; Makino, Hisashi H; Miyamoto, Yoshihiro Y; Pichelin, Matthieu M; Yagi, Kunimasa K; Yamagishi, Masakazu M; Zair, Yassine Y; Mellis, Scott S; Yancopoulos, George D GD; Stahl, Neil N; Mendoza, Johanna J; Du, Yunling Y; Hamon, Sara S; Krempf, Michel M; Swergold, Gary D GD
Publication Date: 2015-12

Variant appearance in text: N/A
PubMed Link: 26374825
Variant Present in the following documents:
View BVdb publication page



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
Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P
Publication Date: 2015-09-18

Variant appearance in text: N/A
PubMed Link: 26195630
Variant Present in the following documents:
View BVdb publication page



PCSK9 and LDLR degradation: regulatory mechanisms in circulation and in cells.

Current Opinion In Lipidology
Lagace, Thomas A TA
Publication Date: 2014-10

Variant appearance in text: N/A
PubMed Link: 25110901
Variant Present in the following documents:
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Isolation and characterization of the circulating truncated form of PCSK9.

Journal Of Lipid Research
Han, Bomie B; Eacho, Patrick I PI; Knierman, Michael D MD; Troutt, Jason S JS; Konrad, Robert J RJ; Yu, Xiaohong X; Schroeder, Krista M KM
Publication Date: 2014-07

Variant appearance in text: N/A
PubMed Link: 24776539
Variant Present in the following documents:
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Cholesterol: the good, the bad, and the ugly - therapeutic targets for the treatment of dyslipidemia.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre
Elshourbagy, Nabil A NA; Meyers, Harold V HV; Abdel-Meguid, Sherin S SS
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 24334831
Variant Present in the following documents:
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Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
Ferri, Nicola N
Publication Date: 2012

Variant appearance in text: N/A
PubMed Link: 24278757
Variant Present in the following documents:
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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
Poirier, Steve S; Mayer, Gaétan G
Publication Date: 2013

Variant appearance in text: N/A
PubMed Link: 24115837
Variant Present in the following documents:
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Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics
Jelassi, Awatef A; Najah, Mohamed M; Slimani, Afef A; Jguirim, Imen I; Slimane, Mohamed Naceur MN; Varret, Mathilde M
Publication Date: 2013-03

Variant appearance in text: N/A
PubMed Link: 23997648
Variant Present in the following documents:
View BVdb publication page



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
Lipari, Michael T MT; Li, Wei W; Moran, Paul P; Kong-Beltran, Monica M; Sai, Tao T; Lai, Joyce J; Lin, S Jack SJ; Kolumam, Ganesh G; Zavala-Solorio, Jose J; Izrael-Tomasevic, Anita A; Arnott, David D; Wang, Jianyong J; Peterson, Andrew S AS; Kirchhofer, Daniel D
Publication Date: 2012-12-21

Variant appearance in text: N/A
PubMed Link: 23135270
Variant Present in the following documents:
View BVdb publication page



c-IAP1 binds and processes PCSK9 protein: linking the c-IAP1 in a TNF-α pathway to PCSK9-mediated LDLR degradation pathway.

Molecules (Basel, Switzerland)
Xu, Weiming W; Liu, Lizhi L; Hornby, David D
Publication Date: 2012-10-15

Variant appearance in text: PCSK9: F216L
PubMed Link: 23085658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics
Ahmad, Zahid Z; Adams-Huet, Beverley B; Chen, Chiyuan C; Garg, Abhimanyu A
Publication Date: 2012-12

Variant appearance in text: FH3: F216L
PubMed Link: 23064986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: N/A
PubMed Link: 21862702
Variant Present in the following documents:
View BVdb publication page



In vivo evidence that furin from hepatocytes inactivates PCSK9.

The Journal Of Biological Chemistry
Essalmani, Rachid R; Susan-Resiga, Delia D; Chamberland, Ann A; Abifadel, Marianne M; Creemers, John W JW; Boileau, Catherine C; Seidah, Nabil G NG; Prat, Annik A
Publication Date: 2011-02-11

Variant appearance in text: N/A
PubMed Link: 21147780
Variant Present in the following documents:
View BVdb publication page



PCSK9: a convertase that coordinates LDL catabolism.

Journal Of Lipid Research
Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2009-04

Variant appearance in text: N/A
PubMed Link: 19020338
Variant Present in the following documents:
View BVdb publication page



Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews
Burnett, John R JR; Hooper, Amanda J AJ
Publication Date: 2008-02

Variant appearance in text: N/A
PubMed Link: 18566665
Variant Present in the following documents:
View BVdb publication page



Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
Fan, Daping D; Yancey, Patricia G PG; Qiu, Shenfeng S; Ding, Lei L; Weeber, Edwin J EJ; Linton, MacRae F MF; Fazio, Sergio S
Publication Date: 2008-02-12

Variant appearance in text: N/A
PubMed Link: 18197702
Variant Present in the following documents:
View BVdb publication page



Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ
Publication Date: 2007-10-31

Variant appearance in text: N/A
PubMed Link: 17971861
Variant Present in the following documents:
View BVdb publication page



Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences
Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2007-02

Variant appearance in text: N/A
PubMed Link: 17215125
Variant Present in the following documents:
View BVdb publication page



Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice.

The Journal Of Clinical Investigation
Lagace, Thomas A TA; Curtis, David E DE; Garuti, Rita R; McNutt, Markey C MC; Park, Sahng Wook SW; Prather, Heidi B HB; Anderson, Norma N NN; Ho, Y K YK; Hammer, Robert E RE; Horton, Jay D JD
Publication Date: 2006-11

Variant appearance in text: N/A
PubMed Link: 17080197
Variant Present in the following documents:
View BVdb publication page



Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American Journal Of Human Genetics
Zhao, Zhenze Z; Tuakli-Wosornu, Yetsa Y; Lagace, Thomas A TA; Kinch, Lisa L; Grishin, Nicholas V NV; Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-09

Variant appearance in text: N/A
PubMed Link: 16909389
Variant Present in the following documents:
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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
Kotowski, Ingrid K IK; Pertsemlidis, Alexander A; Luke, Amy A; Cooper, Richard S RS; Vega, Gloria L GL; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-03

Variant appearance in text: N/A
PubMed Link: 16465619
Variant Present in the following documents:
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A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.

Journal Of The American College Of Cardiology
Chen, Suet N SN; Ballantyne, Christie M CM; Gotto, Antonio M AM; Tan, Yanli Y; Willerson, James T JT; Marian, Ali J AJ
Publication Date: 2005-05-17

Variant appearance in text: N/A
PubMed Link: 15893176
Variant Present in the following documents:
View BVdb publication page