Variant ID: 1-55523828-C-T

NM_174936.3(PCSK9):c.1300C>T;(p.Arg434Trp)

This variant was identified in 8 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: R434W
PMID: 27280970
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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: R434W
PMID: 26195630
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Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
D Han, J Ma, X Zhang, J Cai, J Li, T Tuerxun, C Hao, L Du, J Lei
Publication Date: 2014-09-30

Variant appearance in text: PCSK9: R434W
PMID: 25266949
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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: R434W
PMID: 24808179
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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: R434W
PMID: 23105118
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PCSK9 reduces the protein levels of the LDL receptor in mouse brain during development and after ischemic stroke.

Journal Of Lipid Research
E Rousselet, J Marcinkiewicz, J Kriz, A Zhou, ME Hatten, A Prat, NG Seidah
Publication Date: 2011-07

Variant appearance in text: PCSK9: R434W
PMID: 21518694
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Statins and ezetimibe modulate plasma proprotein convertase subtilisin kexin-9 (PCSK9) levels.

Transactions Of The American Clinical And Climatological Association
J Davignon, G Dubuc
Publication Date: 2009

Variant appearance in text: PCSK9: R434W
PMID: 19768174
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A new method for measurement of total plasma PCSK9: clinical applications.

Journal Of Lipid Research
G Dubuc, M Tremblay, G Paré, H Jacques, J Hamelin, S Benjannet, L Boulet, J Genest, L Bernier, NG Seidah, J Davignon
Publication Date: 2010-01

Variant appearance in text: PCSK9: R434W
PMID: 19571328
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1300C>T p.Arg434Trp missense_variant 8/12 -
ENST00000490692.1 n.2024C>T - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.700C>T p.Arg234Trp missense_variant,splice_region_variant 6/10 -
NM_174936.4 c.1300C>T p.Arg434Trp missense_variant 8/12 -
NR_110451.1 n.959C>T - splice_region_variant,non_coding_transcript_exon_variant 6/10 -