PMID: 24103783

Characterization of the role of EGF-A of low density lipoprotein receptor in PCSK9 binding.

Journal of lipid research
HM Gu, A Adijiang, M Mah, DW Zhang

8 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
12-57548045-A-T LRP1 c.896A>T p.Asp299Val Missense 7/89 -
11-46917855-CAG-GAC LRP4 c.952_954delCTGinsGAC p.Leu318Asp Missense 9/38 -
11-46917855-CA-AT LRP4 c.953_954delTGinsAT p.Leu318His Missense 9/38 -
1-55521861-A-G PCSK9 c.995A>G p.Glu332Gly Missense 6/12 -
12-57548102-T-G LRP1 c.953T>G p.Leu318Arg Missense 7/89 -
12-57548044-GA-AG LRP1 c.895_896delGAinsAG p.Asp299Ser Missense 7/89 -
12-12318095-TT-TG LRP6 c.1679_1680delAAinsTG p.Lys560Met Missense 8/23 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -