Variant ID: 1-55521701-C-A

NM_174936.3(PCSK9):c.835C>A;(p.P279T)

This variant was identified in 2 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: rs72646509
PubMed Link: 30779729
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: PCSK9: P279T
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page