PCSK9 c.1975C>G ;(p.R659G)

Variant ID: 1-55529153-C-G

NM_174936.3(PCSK9):c.1975C>G;(p.R659G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.

Journal Of Atherosclerosis And Thrombosis
Harada-Shiba, Mariko M; Ako, Junya J; Hirayama, Atsushi A; Nakamura, Masato M; Nohara, Atsushi A; Sato, Kayoko K; Murakami, Yoshitaka Y; Koshida, Ryusuke R; Ozaki, Asuka A; Arai, Hidenori H
Publication Date: 2022-08-01

Variant appearance in text: PCSK9: R659G
PubMed Link: 34526433
Variant Present in the following documents:
  • jat-29-1201.pdf
View BVdb publication page



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: rs147182054
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
  • pcbi.1006722.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: PCSK9: R659G; rs147182054
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page