Variant ID: 1-55505649-TC-GA

NM_174936.3(PCSK9):c.139_140inv;(p.Ser47Asp)

This variant was identified in 1 publication




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
A Ben Djoudi Ouadda, MS Gauthier, D Susan-Resiga, E Girard, R Essalmani, M Black, J Marcinkiewicz, D Forget, J Hamelin, A Evagelidis, K Ly, R Day, L Galarneau, F Corbin, B Coulombe, A Çaku, VS Tagliabracci, NG Seidah
Publication Date: 2019-10

Variant appearance in text: PCSK9: S47D
PubMed Link: 31553664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.139_140inv p.Ser47Asp missense_variant 1/12 -
ENST00000452118.2 c.139_140inv p.Ser47Asp missense_variant 1/6 -
NM_174936.4 c.139_140inv p.Ser47Asp missense_variant 1/12 -