PMID: 24808179

Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

The Journal of biological chemistry
K Ly, YG Saavedra, M Canuel, S Routhier, R Desjardins, J Hamelin, J Mayne, C Lazure, NG Seidah, R Day
2014-06-20

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518081-A-C PCSK9 c.654A>C p.Arg218Ser Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
1-55524261-G-C PCSK9 c.1444G>C p.Glu482Gln Missense 9/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Gln554Glu Missense 10/12 -
1-55524261-GA-AG PCSK9 c.1444_1445delGAinsAG p.Glu482Arg Missense 9/12 -
1-55525313-A-G PCSK9 c.1658A>G p.His553Arg Missense 10/12 -
1-55524180-CT-TA PCSK9 c.1363_1364delCTinsTA p.Leu455* Nonsense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55523828-C-T PCSK9 c.1300C>T p.Arg434Trp Missense 8/12 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -