Variant ID: 1-55512251-A-G

NM_174936.3(PCSK9):c.455A>G;(p.Q152R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis.

The Journal Of Biological Chemistry
Chorba, John S JS; Shokat, Kevan M KM
Publication Date: 2014-10-17

Variant appearance in text: PCSK9: Q152R
PubMed Link: 25210046
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: Q152R
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page