Variant ID: 1-55524197-A-G

NM_174936.3(PCSK9):c.1380A>G;(p.V460=)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.

Clinical And Translational Medicine
Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X
Publication Date: 2022-03

Variant appearance in text: PCSK9: 1380A>G
PubMed Link: 35343078
Variant Present in the following documents:
  • CTM2-12-e773-s001.pdf
View BVdb publication page



Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH Registry?

Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2021-12-04

Variant appearance in text: PCSK9: 1380A>G
PubMed Link: 34875256
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs540796
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort.

Journal Of The American Heart Association
Ferreira, João Pedro JP; Xhaard, Constance C; Lamiral, Zohra Z; Borges-Canha, Marta M; Neves, João Sérgio JS; Dandine-Roulland, Claire C; LeFloch, Edith E; Deleuze, Jean-François JF; Bacq-Daian, Delphine D; Bozec, Erwan E; Girerd, Nicolas N; Boivin, Jean-Marc JM; Zannad, Faiez F; Rossignol, Patrick P
Publication Date: 2020-04-07

Variant appearance in text: rs540796
PubMed Link: 32208829
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific Reports
Guo, Tao T; Yin, Rui-Xing RX; Yao, Li-Mei LM; Huang, Feng F; Pan, Ling L; Lin, Wei-Xiong WX; Yang, De-Zhai DZ; Pan, Shang-Ling SL
Publication Date: 2016-11-17

Variant appearance in text: rs540796
PubMed Link: 27853278
Variant Present in the following documents:
  • Main text
View BVdb publication page



Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
Tsai, Ching-Wei CW; North, Kari E KE; Tin, Adrienne A; Haack, Karin K; Franceschini, Nora N; Saroja Voruganti, V V; Laston, Sandy S; Zhang, Ying Y; Best, Lyle G LG; MacCluer, Jean W JW; Beaty, Terri H TH; Navas-Acien, Ana A; Kao, W H Linda WH; Howard, Barbara V BV
Publication Date: 2015-02

Variant appearance in text: rs540796
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs540796
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

European Journal Of Human Genetics : Ejhg
Snozek, Christine L H CL; Lagerstedt, Susan A SA; Khoo, Teck K TK; Rubenfire, Melvyn M; Isley, William L WL; Train, Laura J LJ; Baudhuin, Linnea M LM
Publication Date: 2009-01

Variant appearance in text: N/A
PubMed Link: 18648394
Variant Present in the following documents:
View BVdb publication page



Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
Ding, Keyue K; Kullo, Iftikhar J IJ
Publication Date: 2008-03

Variant appearance in text: rs540796
PubMed Link: 18300938
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: PCSK9: V460V; rs540796
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N/A
PubMed Link: 16465619
Variant Present in the following documents:
View BVdb publication page