PMID: 28450903

PCSK9 as a therapeutic target for cardiovascular disease.

Experimental and therapeutic medicine
PY Zhang
2017-03

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55523811-G-A PCSK9 c.1283G>A p.Trp428* Nonsense 8/12 -
1-55509552-CT-TA PCSK9 c.244_245delCTinsTA p.Leu82* Nonsense 2/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
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 -
1-55523812-G-A PCSK9 c.1284G>A p.Trp428* Nonsense 8/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -