Variant ID: 1-55523127-G-C

NM_174936.3(PCSK9):c.1120G>C;(p.D374H)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: PCSK9: 1120G>C; Asp374His
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx
View BVdb publication page



PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg
Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA
Publication Date: 2021-06

Variant appearance in text: PCSK9: D374H
PubMed Link: 34447653
Variant Present in the following documents:
  • Main text
  • bjmg-24-005.pdf
View BVdb publication page



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: Asp374His; rs137852912
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.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: D374H
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Computational Study of PCSK9-EGFA Complex with Effective Polarizable Bond Force Field.

Frontiers In Molecular Biosciences
Chen, Jian J; Duan, Lili L; Ji, Changge C; Zhang, John Z H JZH
Publication Date: 2017

Variant appearance in text: PCSK9: D374H
PubMed Link: 29379787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biology of proprotein convertase subtilisin kexin 9: beyond low-density lipoprotein cholesterol lowering.

Cardiovascular Research
Norata, Giuseppe Danilo GD; Tavori, Hagai H; Pirillo, Angela A; Fazio, Sergio S; Catapano, Alberico L AL
Publication Date: 2016-10

Variant appearance in text: PCSK9: D374H
PubMed Link: 27496869
Variant Present in the following documents:
  • Main text
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: PCSK9: D374H
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: D374H
PubMed Link: 22875854
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: PCSK9: D374H
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.

Bioinformatics (Oxford, England)
Xin, Fuxiao F; Myers, Steven S; Li, Yong Fuga YF; Cooper, David N DN; Mooney, Sean D SD; Radivojac, Predrag P
Publication Date: 2010-08-15

Variant appearance in text: PCSK9: D374H
PubMed Link: 20551136
Variant Present in the following documents:
  • Main text
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: PCSK9: D374H
PubMed Link: 19020338
Variant Present in the following documents:
  • Main text
View BVdb publication page