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 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
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 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
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 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -
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 -