PMID: 22764087

Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.

Journal of lipid research
Y Wang, Y Huang, HH Hobbs, JC Cohen

4 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
7-55249155-G-C EGFR c.2453G>C p.Cys818Ser Missense 20/28 -
12-93196424-T-C EEA1 c.2426A>G p.Lys809Arg Missense 19/29 -
7-55249154-T-A EGFR c.2452T>A p.Cys818Ser Missense 20/28 -