Variant ID: 1-55524180-CT-TA

NM_174936.3(PCSK9):c.1363_1364delinsTA;(p.Leu455*)

This variant was identified in 4 publications




Publications:


Roles of the low density lipoprotein receptor and related receptors in inhibition of lipoprotein(a) internalization by proprotein convertase subtilisin/kexin type 9.

Plos One
R Romagnuolo, CA Scipione, SM Marcovina, M Gemin, NG Seidah, MB Boffa, ML Koschinsky
Publication Date: 2017

Variant appearance in text: PCSK9: L455X
PMID: 28750079
View BVdb publication page



Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

The Journal Of Biological Chemistry
K Ly, YG Saavedra, M Canuel, S Routhier, R Desjardins, J Hamelin, J Mayne, C Lazure, NG Seidah, R Day
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: L455X
PMID: 24808179
View BVdb publication page



The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
YG Saavedra, R Day, NG Seidah
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: L455X
PMID: 23105118
View BVdb publication page



Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

Journal Of Lipid Research
ØL Holla, J Cameron, K Tveten, TB Strøm, KE Berge, JK Laerdahl, TP Leren
Publication Date: 2011-10

Variant appearance in text: PCSK9: L455X
PMID: 21771976
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1363_1364delinsTA p.Leu455* stop_gained 9/12 -
ENST00000490692.1 n.2087_2088delinsTA - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.711_712delinsTA p.Cys238Ser missense_variant 7/10 -
NM_174936.4 c.1363_1364delinsTA p.Leu455* stop_gained 9/12 -
NR_110451.1 n.970_971delinsTA - non_coding_transcript_exon_variant 7/10 -