PMID: 25544176

On the function and homeostasis of PCSK9: reciprocal interaction with LDLR and additional lipid effects.

H Tavori, S Rashid, S Fazio

3 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
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 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -