PMID: 29748367

PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation research
MD Shapiro, H Tavori, S Fazio
2018-05-11

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55524201-T-C PCSK9 c.1384T>C p.Ser462Pro Missense 9/12 -
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -