PMID: 26902539

The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

The pharmacogenomics journal
Q Feng, WQ Wei, CP Chung, RT Levinson, L Bastarache, JC Denny, CM Stein
2017-03

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
1-55518093-G-A PCSK9 c.657+9G>A - IntronicSNV - 4/11
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -