PCSK9 c.454_455inv ;(p.Q152W)

Variant ID: 1-55512250-CA-TG

NM_174936.3(PCSK9):c.454_455inv;(p.Q152W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PCSK9 prosegment chimera as novel inhibitors of LDLR degradation.

Plos One
Saavedra, Yascara Grisel Luna YG; Zhang, Jianbing J; Seidah, Nabil G NG
Publication Date: 2013

Variant appearance in text: PCSK9: Q152W
PubMed Link: 23951290
Variant Present in the following documents:
  • Main text
  • pone.0072113.pdf
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: Q152W
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page