PMID: 30463987

Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.

Journal of lipid research
AM Galvan, JS Chorba

5 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509585-CG-GC PCSK9 c.277_278delCGinsGC p.Arg93Ala Missense 2/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -