PMID: 24278757

Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
N Ferri
2012

8 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505712-CG-C PCSK9 c.202delG p.Ala68Profs*15 Frameshift 1/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
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 -
1-55518371-G-A PCSK9 c.706G>A p.Gly236Ser Missense 5/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -