PMID: 34070931

PCSK9 Biology and Its Role in Atherothrombosis.

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

12 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529182-C-A PCSK9 c.2004C>A p.Ser668Arg Missense 12/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55529182-C-G PCSK9 c.2004C>G p.Ser668Arg Missense 12/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
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 -
1-55524201-T-C PCSK9 c.1384T>C p.Ser462Pro Missense 9/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
1-55529180-A-C PCSK9 c.2002A>C p.Ser668Arg Missense 12/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
2-21263813-GA-CG APOB c.379_380delTCinsCG p.Ser127Arg Missense 4/29 -