PMID: 25600226

Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Basic research in cardiology
R Schulz, KD Schl├╝ter, U Laufs
2015-03

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-16144063-C-T MYLIP c.796C>T p.Arg266* Nonsense 5/7 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55524201-T-C PCSK9 c.1384T>C p.Ser462Pro Missense 9/12 -
1-55529212-C-A PCSK9 c.2034C>A p.Cys678* Nonsense 12/12 -