Variant ID: 2-21250758-T-C

NM_000384.2(APOB):c.2009A>G;(p.E670G)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: APOB: E670G
PubMed Link: 34356856
Variant Present in the following documents:
  • biomedicines-09-00793.pdf
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PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: APOB: E670G
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Gene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations.

Scientific Reports
Williams, Paul T PT
Publication Date: 2020-03-11

Variant appearance in text: APOB: E670G
PubMed Link: 32161301
Variant Present in the following documents:
  • Main text
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What is the impact of PCSK9 rs505151 and rs11591147 polymorphisms on serum lipids level and cardiovascular risk: a meta-analysis.

Lipids In Health And Disease
Qiu, Chengfeng C; Zeng, Pingyu P; Li, Xiaohui X; Zhang, Zhen Z; Pan, Bingjie B; Peng, Zhou Y F ZYF; Li, Yapei Y; Ma, Yeshuo Y; Leng, Yiping Y; Chen, Ruifang R
Publication Date: 2017-06-12

Variant appearance in text: APOB: E670G
PubMed Link: 28606094
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: APOB: Glu670Gly
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
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Impact of 3'UTR genetic variants in PCSK9 and LDLR genes on plasma lipid traits and response to atorvastatin in Brazilian subjects: a pilot study.

International Journal Of Clinical And Experimental Medicine
Zambrano, Tomás T; Hirata, Mario Hiroyuki MH; Cerda, Álvaro Á; Dorea, Egidio L EL; Pinto, Gelba A GA; Gusukuma, Maria C MC; Bertolami, Marcelo C MC; Salazar, Luis A LA; Hirata, Rosario Dominguez Crespo RD
Publication Date: 2015

Variant appearance in text: APOB: E670G
PubMed Link: 26131194
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: APOB: E670G
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the effect of genetic variation on the relationship between statins, cardiovascular disease and cancer.

International Journal Of Molecular Epidemiology And Genetics
Desai, Pinkal P; Jay, Allison A; Bock, Cathryn C; Dyson, Gregory G; Okwuosa, Tochukwu T; Simon, Michael S MS
Publication Date: 2013-11-28

Variant appearance in text: APOB: E670G
PubMed Link: 24319534
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
Mayne, Janice J; Ooi, Teik Chye TC; Raymond, Angela A; Cousins, Marion M; Bernier, Lise L; Dewpura, Thilina T; Sirois, Francine F; Mbikay, Majambu M; Davignon, Jean J; Chrétien, Michel M
Publication Date: 2013-05-10

Variant appearance in text: APOB: E670G
PubMed Link: 23663650
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: APOB: 2009A>G; E670G
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptive genetic variation and heart disease risk.

Current Opinion In Lipidology
Parnell, Laurence D LD; Lee, Yu-Chi YC; Lai, Chao-Qiang CQ
Publication Date: 2010-04

Variant appearance in text: APOB: E670G
PubMed Link: 20154611
Variant Present in the following documents:
  • Main text
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Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

Circulation. Cardiovascular Genetics
Huang, Chiang-Ching CC; Fornage, Myriam M; Lloyd-Jones, Donald M DM; Wei, Gina S GS; Boerwinkle, Eric E; Liu, Kiang K
Publication Date: 2009-08

Variant appearance in text: APOB: E670G
PubMed Link: 20031607
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,
Publication Date: 2006-12

Variant appearance in text:
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page



The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women.

Bmc Medical Genetics
Evans, David D; Beil, Frank U FU
Publication Date: 2006-07-31

Variant appearance in text: APOB: E670G
PubMed Link: 16875509
Variant Present in the following documents:
  • Main text
View BVdb publication page