Variant ID: 1-55523142-TT-GC

NM_174936.3(PCSK9):c.1135_1136delinsGC;(p.Phe379Ala)

This variant was identified in 5 publications




Publications:


Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
Publication Date: 2016

Variant appearance in text: PCSK9: F379A
PMID: 27280970
View BVdb publication page



Emerging Roles of PCSK9: More Than a One-Trick Pony.

Arteriosclerosis, Thrombosis, And Vascular Biology
KJ Moore, IJ Goldberg
Publication Date: 2016-02

Variant appearance in text: PCSK9: F379A
PMID: 26819460
View BVdb publication page



Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: F379A
PMID: 26195630
View BVdb publication page



Identification of a small peptide that inhibits PCSK9 protein binding to the low density lipoprotein receptor.

The Journal Of Biological Chemistry
Y Zhang, C Eigenbrot, L Zhou, S Shia, W Li, C Quan, J Tom, P Moran, P Di Lello, NJ Skelton, M Kong-Beltran, A Peterson, D Kirchhofer
Publication Date: 2014-01-10

Variant appearance in text: PCSK9: F379A
PMID: 24225950
View BVdb publication page



Characterization of proprotein convertase subtilisin/kexin type 9 (PCSK9) trafficking reveals a novel lysosomal targeting mechanism via amyloid precursor-like protein 2 (APLP2).

The Journal Of Biological Chemistry
RM DeVay, DL Shelton, H Liang
Publication Date: 2013-04-12

Variant appearance in text: PCSK9: F379A
PMID: 23430252
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1135_1136delinsGC p.Phe379Ala missense_variant 7/12 -
ENST00000490692.1 n.1859_1860delinsGC - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.535_536delinsGC p.Phe179Ala missense_variant 5/10 -
NM_174936.4 c.1135_1136delinsGC p.Phe379Ala missense_variant 7/12 -
NR_110451.1 n.794_795delinsGC - non_coding_transcript_exon_variant 5/10 -