PMID: 35323699

Insight into the Evolving Role of PCSK9.

Metabolites
Maligłówka, Mateusz M, Kosowski, Michał M, Hachuła, Marcin M, Cyrnek, Marcin M, Bułdak, Łukasz Ł, Basiak, Marcin M, Bołdys, Aleksandra A, Machnik, Grzegorz G, Bułdak, Rafał Jakub RJ, Okopień, Bogusław B
2022-03-17

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55512222-C-A PCSK9 c.426C>A p.Y142* Nonsense 3/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55509693-G-A PCSK9 c.385G>A p.D129N Missense 2/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -