Variant ID: 1-55525315-C-G

NM_174936.3(PCSK9):c.1660C>G;(p.Q554E)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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

Plos Computational Biology
Marceau West, Rachel R; Lu, Wenbin W; Rotroff, Daniel M DM; Kuenemann, Melaine A MA; Chang, Sheng-Mao SM; Wu, Michael C MC; Wagner, Michael J MJ; Buse, John B JB; Motsinger-Reif, Alison A AA; Fourches, Denis D; Tzeng, Jung-Ying JY
Publication Date: 2019-02

Variant appearance in text: rs149311926
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
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Development of vaccine for dyslipidemia targeted to a proprotein convertase subtilisin/kexin type 9 (PCSK9) epitope in mice.

Plos One
Kawakami, Ryo R; Nozato, Yoichi Y; Nakagami, Hironori H; Ikeda, Yuka Y; Shimamura, Munehisa M; Yoshida, Shota S; Sun, Jiao J; Kawano, Tomohiro T; Takami, Yoichi Y; Noma, Takahisa T; Rakugi, Hiromi H; Minamino, Tetsuo T; Morishita, Ryuichi R
Publication Date: 2018

Variant appearance in text: PCSK9: Q554E
PubMed Link: 29438441
Variant Present in the following documents:
  • Main text
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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
Han, Deng-Feng DF; Ma, Jian-Hua JH; Hao, Chen-Guang CG; Tuerhong Tuerxun, ; Du, Lei L; Zhang, Xiao-Ning XN
Publication Date: 2017-08

Variant appearance in text: rs149311926
PubMed Link: 28966647
Variant Present in the following documents:
  • Main text
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Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene.

Atherosclerosis
Fairoozy, Roaa Hani RH; Cooper, Jackie J; White, Jon J; Giambartolomei, Claudia C; Folkersen, Lasse L; Wannamethee, S Goya SG; Jefferis, Barbara J BJ; Whincup, Peter P; Ben-Shlomo, Yoav Y; Kumari, Meena M; Kivimaki, Mika M; Wong, Andrew A; Hardy, Rebecca R; Kuh, Diana D; Gaunt, Tom R TR; Casas, J P JP; McLachlan, Stela S; Price, Jackie F JF; Hingorani, Aroon A; Franco-Cereceda, Anders A; Grewal, Thomas T; Kalea, Anastasia Z AZ; Humphries, Steve E SE; ,
Publication Date: 2017-06

Variant appearance in text: PCSK9: Q554E
PubMed Link: 28456096
Variant Present in the following documents:
  • Main text
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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
Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: Q554E
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
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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
Tran, Ngan T NT; Aslibekyan, Stella S; Tiwari, Hemant K HK; Zhi, Degui D; Sung, Yun Ju YJ; Hunt, Steven C SC; Rao, D C DC; Broeckel, Ulrich U; Judd, Suzanne E SE; Muntner, Paul P; Kent, Shia T ST; Arnett, Donna K DK; Irvin, Marguerite R MR
Publication Date: 2015

Variant appearance in text: PCSK9: Q554E
PubMed Link: 25904937
Variant Present in the following documents:
  • Main text
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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
Han, Dengfeng D; Ma, Jianhua J; Zhang, Xiaoning X; Cai, Jian J; Li, Jinlan J; Tuerxun, Tuerhong T; Hao, Chenguang C; Du, Lei L; Lei, Jing J
Publication Date: 2014-09-30

Variant appearance in text: rs149311926
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
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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
Ly, Kévin K; Saavedra, Yascara Grisel Luna YG; Canuel, Maryssa M; Routhier, Sophie S; Desjardins, Roxane R; Hamelin, Josée J; Mayne, Janice J; Lazure, Claude C; Seidah, Nabil G NG; Day, Robert R
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: Q554E
PubMed Link: 24808179
Variant Present in the following documents:
  • Main text
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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
Saavedra, Yascara Grisel Luna YG; Day, Robert R; Seidah, Nabil G NG
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: Q554E
PubMed Link: 23105118
Variant Present in the following documents:
  • Main text
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A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.

The Journal Of Biological Chemistry
Ni, Yan G YG; Condra, Jon H JH; Orsatti, Laura L; Shen, Xun X; Di Marco, Stefania S; Pandit, Shilpa S; Bottomley, Matthew J MJ; Ruggeri, Lionello L; Cummings, Richard T RT; Cubbon, Rose M RM; Santoro, Joseph C JC; Ehrhardt, Anka A; Lewis, Dale D; Fisher, Timothy S TS; Ha, Sookhee S; Njimoluh, Leila L; Wood, Dana D DD; Hammond, Holly A HA; Wisniewski, Douglas D; Volpari, Cinzia C; Noto, Alessia A; Lo Surdo, Paola P; Hubbard, Brian B; Carfí, Andrea A; Sitlani, Ayesha A
Publication Date: 2010-04-23

Variant appearance in text: PCSK9: Q554E
PubMed Link: 20172854
Variant Present in the following documents:
  • Main text
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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
Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ
Publication Date: 2007-10-31

Variant appearance in text: PCSK9: Q554E
PubMed Link: 17971861
Variant Present in the following documents:
  • Main text
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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
Kotowski, Ingrid K IK; Pertsemlidis, Alexander A; Luke, Amy A; Cooper, Richard S RS; Vega, Gloria L GL; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-03

Variant appearance in text:
PubMed Link: 16465619
Variant Present in the following documents:
  • Main text
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