Variant ID: 1-55523729-TCT-GAG

NM_174936.3(PCSK9):c.1201_1203delinsGAG;(p.S401E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).

Arteriosclerosis, Thrombosis, And Vascular Biology
Ben Djoudi Ouadda, Ali A; Gauthier, Marie-Soleil MS; Susan-Resiga, Delia D; Girard, Emmanuelle E; Essalmani, Rachid R; Black, Miles M; Marcinkiewicz, Jadwiga J; Forget, Diane D; Hamelin, Josée J; Evagelidis, Alexandra A; Ly, Kevin K; Day, Robert R; Galarneau, Luc L; Corbin, Francois F; Coulombe, Benoit B; Çaku, Artuela A; Tagliabracci, Vincent S VS; Seidah, Nabil G NG
Publication Date: 2019-10

Variant appearance in text: PCSK9: S401E
PubMed Link: 31553664
Variant Present in the following documents:
  • Main text
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