PMID: 34606887

The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Journal of lipid research
Seidah, Nabil G NG
2021-10-01

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
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 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
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 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55523163-T-G PCSK9 c.1156T>G p.S386A Missense 7/12 -
1-55518341-CA-GC PCSK9 c.676_677delCAinsGC p.H226A Missense 5/12 -
19-11223997-G-C LDLR c.1230G>C p.R410S Missense 9/18 -
19-11223997-G-T LDLR c.1230G>T p.R410S Missense 9/18 -