PCSK9 c.454_455delinsTC ;(p.Q152S)

Variant ID: 1-55512250-CA-TC

NM_174936.3(PCSK9):c.454_455delinsTC;(p.Q152S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry
Lebeau, Paul P; Platko, Khrystyna K; Al-Hashimi, Ali A AA; Byun, Jae Hyun JH; Lhoták, Šárka Š; Holzapfel, Nicholas N; Gyulay, Gabriel G; Igdoura, Suleiman A SA; Cool, David R DR; Trigatti, Bernardo B; Seidah, Nabil G NG; Austin, Richard C RC
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: Q152S
PubMed Link: 29593095
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: Q152S
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page