PCSK9 c.652_653delinsGC ;(p.R218A)

Variant ID: 1-55518079-AG-GC

NM_174936.3(PCSK9):c.652_653delinsGC;(p.R218A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Drug Design, Development And Therapy
Poirier, Steve S; Mayer, GaƩtan G
Publication Date: 2013

Variant appearance in text: PCSK9: R218A
PubMed Link: 24115837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

The Journal Of Biological Chemistry
Lipari, Michael T MT; Li, Wei W; Moran, Paul P; Kong-Beltran, Monica M; Sai, Tao T; Lai, Joyce J; Lin, S Jack SJ; Kolumam, Ganesh G; Zavala-Solorio, Jose J; Izrael-Tomasevic, Anita A; Arnott, David D; Wang, Jianyong J; Peterson, Andrew S AS; Kirchhofer, Daniel D
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R218A
PubMed Link: 23135270
Variant Present in the following documents:
  • Main text
  • zbc43482.pdf
View BVdb publication page