PCSK9 c.1438G>A ;(p.D480N)

Variant ID: 1-55524255-G-A

NM_174936.3(PCSK9):c.1438G>A;(p.D480N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular interactions of PCSK9 with an inhibitory nanobody, CAP1 and HLA-C: functional regulation of LDLR levels.

Molecular Metabolism
Gaillard, Carole Fruchart CF; Ben Djoudi Ouadda, Ali A; Ciccone, Lidia L; Girard, Emmanuelle E; Mikaeeli, Sepideh S; Evagelidis, Alexandra A; Le Dévéhat, Maïlys M; Susan-Resiga, Delia D; Lajeunesse, Evelyne Cassar EC; Nozach, Hervé H; Pereira Ramos, Oscar Henrique OH; Thureau, Aurélien A; Legrand, Pierre P; Prat, Annik A; Dive, Vincent V; Seidah, Nabil G NG
Publication Date: 2022-12-22

Variant appearance in text: PCSK9: D480N
PubMed Link: 36566984
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.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: D480N
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page