Variant ID: 1-55512250-CAG-AAC

NM_174936.3(PCSK9):c.454_456delinsAAC;(p.Q152N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Protein Science : A Publication Of The Protein Society
Garvie, Colin W CW; Fraley, Cara V CV; Elowe, Nadine H NH; Culyba, Elizabeth K EK; Lemke, Christopher T CT; Hubbard, Brian K BK; Kaushik, Virendar K VK; Daniels, Douglas S DS
Publication Date: 2016-11

Variant appearance in text: PCSK9: Q152N
PubMed Link: 27534510
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: Q152N
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page