PMID: 28439730

Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic research in cardiology
S Glerup, R Schulz, U Laufs, KD Schl├╝ter
2017-05

8 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55518081-A-C PCSK9 c.654A>C p.Arg218Ser Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
10-74908159-G-A ECD c.916C>T p.His306Tyr Missense 8/14 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -