PCSK9 c.1283G>A ;(p.W428*)

Variant ID: 1-55523811-G-A

NM_174936.3(PCSK9):c.1283G>A;(p.W428*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association
Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS
Publication Date: 2022-06-21

Variant appearance in text: PCSK9: Trp428Ter
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361-s001.pdf
  • JAH3-11-e025361.pdf
View BVdb publication page



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: PCSK9: W428X
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
View BVdb publication page



PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
Zhang, Pei-Ying PY
Publication Date: 2017-03

Variant appearance in text: PCSK9: W428X
PubMed Link: 28450903
Variant Present in the following documents:
  • Main text
  • etm-13-03-0810.pdf
View BVdb publication page