Variant ID: 1-55509693-G-A

NM_174936.3(PCSK9):c.385G>A;(p.D129N)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Insight into the Evolving Role of PCSK9.

Metabolites
Maligłówka, Mateusz M; Kosowski, Michał M; Hachuła, Marcin M; Cyrnek, Marcin M; Bułdak, Łukasz Ł; Basiak, Marcin M; Bołdys, Aleksandra A; Machnik, Grzegorz G; Bułdak, Rafał Jakub RJ; Okopień, Bogusław B
Publication Date: 2022-03-17

Variant appearance in text: PCSK9: D129N
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
View BVdb publication page



A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International Journal Of Molecular Sciences
Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C
Publication Date: 2021-12-18

Variant appearance in text: PCSK9: D129N
PubMed Link: 34948399
Variant Present in the following documents:
  • Main text
  • ijms-22-13602.pdf
View BVdb publication page



Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

Arteriosclerosis, Thrombosis, And Vascular Biology
Björnsson, Eythór E; Thorgeirsson, Guðmundur G; Helgadóttir, Anna A; Thorleifsson, Guðmar G; Sveinbjörnsson, Garðar G; Kristmundsdóttir, Snaedís S; Jónsson, Hákon H; Jónasdóttir, Aðalbjörg A; Jónasdóttir, Áslaug Á; Sigurðsson, Ásgeir Á; Guðnason, Thórarinn T; Ólafsson, Ísleifur Í; Sigurðsson, Emil L EL; Sigurðardóttir, Ólöf Ó; Viðarsson, Brynjar B; Baldvinsson, Magnús M; Bjarnason, Ragnar R; Danielsen, Ragnar R; Matthíasson, Stefán E SE; Thórarinsson, Björn L BL; Grétarsdóttir, Sólveig S; Steinthórsdóttir, Valgerður V; Halldórsson, Bjarni V BV; Andersen, Karl K; Arnar, Davíð O DO; Jónsdóttir, Ingileif I; Guðbjartsson, Daníel F DF; Hólm, Hilma H; Thorsteinsdóttir, Unnur U; Sulem, Patrick P; Stefánsson, Kári K
Publication Date: 2021-10

Variant appearance in text: PCSK9: Asp129Asn
PubMed Link: 34407635
Variant Present in the following documents:
  • atv-41-2616-s001.pdf
  • atv-41-2616.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: Asp129Asn
PubMed Link: 33244470
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: D129N
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: D129N
PubMed Link: 26195630
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: PCSK9: 385G>A
PubMed Link: 23064986
Variant Present in the following documents:
  • Main text
View BVdb publication page