PMID: 34070931

PCSK9 Biology and Its Role in Atherothrombosis.

International journal of molecular sciences
Barale, Cristina C, Melchionda, Elena E, Morotti, Alessandro A, Russo, Isabella I
2021-05-30

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518075-C-A PCSK9 c.648C>A p.F216L Missense 4/12 -
1-55518075-C-G PCSK9 c.648C>G p.F216L Missense 4/12 -
1-55523163-T-G PCSK9 c.1156T>G p.S386A Missense 7/12 -
1-55529182-C-G PCSK9 c.2004C>G p.S668R Missense 12/12 -
1-55529180-A-C PCSK9 c.2002A>C p.S668R Missense 12/12 -
1-55524201-T-C PCSK9 c.1384T>C p.S462P Missense 9/12 -
1-55529182-C-A PCSK9 c.2004C>A p.S668R Missense 12/12 -
2-21263813-GA-CG APOB c.379_380delTCinsCG p.S127R Missense 4/29 -