Variant ID: 1-55523729-TCT-GAG


This variant was identified in 1 publication


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: S401E
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.1201_1203delinsGAG p.Ser401Glu missense_variant 8/12 -
ENST00000490692.1 n.1925_1927delinsGAG - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.601_603delinsGAG p.Ser201Glu missense_variant 6/10 -
NM_174936.4 c.1201_1203delinsGAG p.Ser401Glu missense_variant 8/12 -
NR_110451.1 n.860_862delinsGAG - non_coding_transcript_exon_variant 6/10 -