Variant ID: 1-55518075-C-G

NM_174936.3(PCSK9):c.648C>G;(p.F216L)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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
View BVdb publication page



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
View BVdb publication page



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



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 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



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