PCSK9 c.454C>T ;(p.Q152*)

Variant ID: 1-55512250-C-T

NM_174936.3(PCSK9):c.454C>T;(p.Q152*)

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: Q152X
PubMed Link: 27534510
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Q152X
PubMed Link: 25210046
Variant Present in the following documents:
  • Main text
View BVdb publication page