Variant ID: 1-55525315-C-G

NM_174936.3(PCSK9):c.1660C>G;(p.Gln554Glu)

This variant was identified in 9 publications




Publications:


Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: rs149311926
PMID: 30779729
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Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.

Neural Regeneration Research
DF Han, JH Ma, CG Hao, Tuerhong Tuerxun, L Du, XN Zhang
Publication Date: 2017-08

Variant appearance in text: rs149311926
PMID: 28966647
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Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene.

Atherosclerosis
RH Fairoozy, J Cooper, J White, C Giambartolomei, L Folkersen, SG Wannamethee, BJ Jefferis, P Whincup, Y Ben-Shlomo, M Kumari, M Kivimaki, A Wong, R Hardy, D Kuh, TR Gaunt, JP Casas, S McLachlan, JF Price, A Hingorani, A Franco-Cereceda, T Grewal, AZ Kalea, SE Humphries,
Publication Date: 2017-06

Variant appearance in text: PCSK9: Q554E
PMID: 28456096
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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: Q554E
PMID: 25904937
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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: N/A
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: Q554E
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: Q554E
PMID: 23105118
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Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
K Ding, SJ McDonough, IJ Kullo
Publication Date: 2007-10-31

Variant appearance in text: PCSK9: Q554E
PMID: 17971861
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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs
Publication Date: 2006-03

Variant appearance in text: PCSK9: 1660C>G; Q554E
PMID: 16465619
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1660C>G p.Gln554Glu missense_variant 10/12 -
ENST00000490692.1 n.2227+995C>G - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*207C>G - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1660C>G p.Gln554Glu missense_variant 10/12 -
NR_110451.1 n.1267C>G - non_coding_transcript_exon_variant 8/10 -