Variant ID: 1-55518007-CG-GC

NM_174936.3(PCSK9):c.580_581delinsGC;(p.Arg194Ala)

This variant was identified in 3 publications




Publications:


Treatment-Induced Viral Cure of Hepatitis C Virus-Infected Patients Involves a Dynamic Interplay among three Important Molecular Players in Lipid Homeostasis: Circulating microRNA (miR)-24, miR-223, and Proprotein Convertase Subtilisin/Kexin Type 9.

Ebiomedicine
A Hyrina, AD Olmstead, P Steven, M Krajden, E Tam, F Jean
Publication Date: 2017-09

Variant appearance in text: PCSK9: R194A
PMID: 28864162
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: R194A
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: R194A
PMID: 24225950
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.580_581delinsGC p.Arg194Ala missense_variant 4/12 -
ENST00000452118.2 c.*224_*225delinsGC - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1401_1402delinsGC - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-21_-20delinsGC - 5_prime_UTR_variant 2/10 -
NM_174936.4 c.580_581delinsGC p.Arg194Ala missense_variant 4/12 -
NR_110451.1 n.239_240delinsGC - non_coding_transcript_exon_variant 2/10 -