Variant ID: 1-55509694-A-G

NM_174936.3(PCSK9):c.386A>G;(p.Asp129Gly)

This variant was identified in 10 publications




Publications:


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

Frontiers In Cardiovascular Medicine
YY Li, H Wang, XX Yang, HY Geng, G Gong, XZ Lu
Publication Date: 2020

Variant appearance in text: PCSK9: D129G
PubMed Link: 33244470
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: D129G
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.

Journal Of Lipid Research
AM Galvan, JS Chorba
Publication Date: 2019-01

Variant appearance in text: PCSK9: D129G
PubMed Link: 30463987
Variant Present in the following documents:
  • Main text
  • jlrM087189.pdf
View BVdb publication page



PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research
MD Shapiro, H Tavori, S Fazio
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: D129G
PubMed Link: 29748367
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
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: D129G
PubMed Link: 29259136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
Publication Date: 2016

Variant appearance in text: PCSK9: D129G
PubMed Link: 27280970
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
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: D129G
PubMed Link: 26195630
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
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: D129G
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 is required for the disposal of non-acetylated intermediates of the nascent membrane protein BACE1.

Embo Reports
MC Jonas, C Costantini, L Puglielli
Publication Date: 2008-09

Variant appearance in text: PCSK9: D129G
PubMed Link: 18660751
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews
JR Burnett, AJ Hooper
Publication Date: 2008-02

Variant appearance in text: PCSK9: D129G
PubMed Link: 18566665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.386A>G p.Asp129Gly missense_variant 2/12 -
ENST00000452118.2 c.386A>G p.Asp129Gly missense_variant 2/6 -
ENST00000543384.1 c.-78+3618A>G - intron_variant - 1/9
NM_174936.4 c.386A>G p.Asp129Gly missense_variant 2/12 -
NR_110451.1 n.182+3618A>G - intron_variant,non_coding_transcript_variant - 1/9