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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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