Variant ID: 1-55518341-CA-GC

NM_174936.3(PCSK9):c.676_677delinsGC;(p.His226Ala)

This variant was identified in 7 publications




Publications:


The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice
NG Seidah
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: H226A
PMID: 28971102
View BVdb publication page



The cytosolic adaptor AP-1A is essential for the trafficking and function of Niemann-Pick type C proteins.

Traffic (Copenhagen, Denmark)
S Poirier, G Mayer, SR Murphy, WS Garver, TY Chang, P Schu, NG Seidah
Publication Date: 2013-04

Variant appearance in text: PCSK9: H226A
PMID: 23350547
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Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chr├ętien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: H226A
PMID: 22875854
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Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: H226A
PMID: 20937814
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Dissection of the endogenous cellular pathways of PCSK9-induced low density lipoprotein receptor degradation: evidence for an intracellular route.

The Journal Of Biological Chemistry
S Poirier, G Mayer, V Poupon, PS McPherson, R Desjardins, K Ly, MC Asselin, R Day, FJ Duclos, M Witmer, R Parker, A Prat, NG Seidah
Publication Date: 2009-10-16

Variant appearance in text: PCSK9: H226A
PMID: 19635789
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PCSK9 is required for the disposal of non-acetylated intermediates of the nascent membrane protein BACE1.

Embo Reports
MC Jonas, C Costantini, L Puglielli
Publication Date: 2008-09

Variant appearance in text: PCSK9: H226A
PMID: 18660751
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The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
NG Seidah, S Benjannet, L Wickham, J Marcinkiewicz, SB Jasmin, S Stifani, A Basak, A Prat, M Chretien
Publication Date: 2003-02-04

Variant appearance in text: NARC-1: H226A
PMID: 12552133
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.676_677delinsGC p.His226Ala missense_variant 5/12 -
ENST00000452118.2 c.*320_*321delinsGC - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1497_1498delinsGC - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.76_77delinsGC p.His26Ala missense_variant 3/10 -
NM_174936.4 c.676_677delinsGC p.His226Ala missense_variant 5/12 -
NR_110451.1 n.335_336delinsGC - non_coding_transcript_exon_variant 3/10 -