Variant ID: 1-55518166-G-A


This variant was identified in 3 publications

View GRCh38 version.


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: 657+82G>A
PubMed Link: 35343078
Variant Present in the following documents:
  • CTM2-12-e773-s001.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: rs625619
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
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: rs625619
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page