PCSK9 c.454_455delinsGT ;(p.Q152V)

Variant ID: 1-55512250-CA-GT

NM_174936.3(PCSK9):c.454_455delinsGT;(p.Q152V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: Q152V
PubMed Link: 29259136
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: Q152V
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page