Variant ID: 1-55523142-TT-GC

NM_174936.3(PCSK9):c.1135_1136delinsGC;(p.F379A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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

Plos One
Poirier, Steve S; Hamouda, Hocine Ait HA; Villeneuve, Louis L; Demers, Annie A; Mayer, Gaétan G
Publication Date: 2016

Variant appearance in text: PCSK9: F379A
PubMed Link: 27280970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging Roles of PCSK9: More Than a One-Trick Pony.

Arteriosclerosis, Thrombosis, And Vascular Biology
Moore, Kathryn J KJ; Goldberg, Ira J IJ
Publication Date: 2016-02

Variant appearance in text: PCSK9: F379A
PubMed Link: 26819460
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: F379A
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a small peptide that inhibits PCSK9 protein binding to the low density lipoprotein receptor.

The Journal Of Biological Chemistry
Zhang, Yingnan Y; Eigenbrot, Charles C; Zhou, Lijuan L; Shia, Steven S; Li, Wei W; Quan, Clifford C; Tom, Jeffrey J; Moran, Paul P; Di Lello, Paola P; Skelton, Nicholas J NJ; Kong-Beltran, Monica M; Peterson, Andrew A; Kirchhofer, Daniel D
Publication Date: 2014-01-10

Variant appearance in text: PCSK9: F379A
PubMed Link: 24225950
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of proprotein convertase subtilisin/kexin type 9 (PCSK9) trafficking reveals a novel lysosomal targeting mechanism via amyloid precursor-like protein 2 (APLP2).

The Journal Of Biological Chemistry
DeVay, Rachel M RM; Shelton, David L DL; Liang, Hong H
Publication Date: 2013-04-12

Variant appearance in text: PCSK9: F379A
PubMed Link: 23430252
Variant Present in the following documents:
  • Main text
View BVdb publication page