PMID: 31419281

Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.

European heart journal
HD Jang, SE Lee, J Yang, HC Lee, D Shin, H Lee, J Lee, S Jin, S Kim, SJ Lee, J You, HW Park, KY Nam, SH Lee, SW Park, JS Kim, SY Kim, YW Kwon, SH Kwak, HM Yang, HS Kim
2019-08-16

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55525195-G-A PCSK9 c.1540G>A p.Ala514Thr Missense 10/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55529180-A-C PCSK9 c.2002A>C p.Ser668Arg Missense 12/12 -
X-119602991-A-C LAMP2 c.34T>G p.Ser12Ala Missense 1/9 -
1-55529182-C-G PCSK9 c.2004C>G p.Ser668Arg Missense 12/12 -
1-55529182-C-A PCSK9 c.2004C>A p.Ser668Arg Missense 12/12 -