PMID: 24103783

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

Journal of lipid research
Gu, Hong-mei HM, Adijiang, Ayinuer A, Mah, Matthew M, Zhang, Da-wei DW
2013-12

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-176831256-G-C F12 c.959C>G p.P320R Missense 9/14 -
11-46917855-CA-AT LRP4 c.953_954delTGinsAT p.L318H Missense 9/38 -
9-2643684-GG-CA VLDLR c.877_878delGGinsCA p.G293H Missense 6/19 -
12-12318095-TT-CA LRP6 c.1679_1680delAAinsTG p.K560M Missense 8/23 -
11-46917855-CAG-GTC LRP4 c.952_954delCTGinsGAC p.L318D Missense 9/38 -
12-57548044-GA-AG LRP1 c.895_896delGAinsAG p.D299S Missense 7/89 -
12-57548102-T-G LRP1 c.953T>G p.L318R Missense 7/89 -
1-55521861-A-G PCSK9 c.995A>G p.E332G Missense 6/12 -
12-57548045-A-T LRP1 c.896A>T p.D299V Missense 7/89 -