Variant ID: 1-55529174-AGC-GAG

NM_174936.3(PCSK9):c.1996_1998delinsGAG;(p.Ser666Glu)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: S666E
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.1996_1998delinsGAG p.Ser666Glu missense_variant 12/12 -
ENST00000490692.1 n.2542_2544delinsGAG - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.1996_1998delinsGAG p.Ser666Glu missense_variant 12/12 -
NR_110451.1 n.1603_1605delinsGAG - non_coding_transcript_exon_variant 10/10 -