PMID: 34782856

Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers in cardiovascular medicine
Xia, Xiao-Dan XD, Peng, Zhong-Sheng ZS, Gu, Hong-Mei HM, Wang, Maggie M, Wang, Gui-Qing GQ, Zhang, Da-Wei DW
2021

39 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523802-A-G PCSK9 c.1274A>G p.N425S Missense 8/12 -
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -
1-55524313-G-A PCSK9 c.1496G>A p.R499H Missense 9/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55523077-G-A PCSK9 c.1070G>A p.R357H Missense 7/12 -
1-55509624-G-A PCSK9 c.316G>A p.G106R Missense 2/12 -
1-55509624-G-C PCSK9 c.316G>C p.G106R Missense 2/12 -
1-55518371-G-A PCSK9 c.706G>A p.G236S Missense 5/12 -
1-55512267-C-G PCSK9 c.471C>G p.N157K Missense 3/12 -
1-55512267-C-A PCSK9 c.471C>A p.N157K Missense 3/12 -
1-55509585-C-T PCSK9 c.277C>T p.R93C Missense 2/12 -
16-8905010-G-A PMM2 c.422G>A p.R141H Missense 5/8 -
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55523068-A-T PCSK9 c.1061A>T p.N354I Missense 7/12 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -
1-55505613-G-T PCSK9 c.103G>T p.D35Y Missense 1/12 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55524201-T-C PCSK9 c.1384T>C p.S462P Missense 9/12 -
1-55509618-C-T PCSK9 c.310C>T p.R104C Missense 2/12 -
1-55529084-A-C PCSK9 c.1906A>C p.S636R Missense 12/12 -
1-55509595-G-T PCSK9 c.287G>T p.R96L Missense 2/12 -
1-55518422-C-T PCSK9 c.757C>T p.L253F Missense 5/12 -
1-55518323-G-A PCSK9 c.658G>A p.A220T Missense 5/12 -
1-55509622-G-A PCSK9 c.314G>A p.R105Q Missense 2/12 -
1-55521812-G-T PCSK9 c.946G>T p.G316C Missense 6/12 -
1-55529086-T-G PCSK9 c.1908T>G p.S636R Missense 12/12 -
16-8898650-C-T PMM2 c.205C>T p.P69S Missense 3/8 -
1-55512299-C-A PCSK9 c.503C>A p.A168E Missense 3/12 -
1-55529086-T-A PCSK9 c.1908T>A p.S636R Missense 12/12 -
11-129999048-CGT-TGG APLP2 c.1402_1404delCGTinsTGG p.R468W Missense 10/17 -
1-55524309-G-A PCSK9 c.1492G>A p.E498K Missense 9/12 -
12-57550051-A-T LRP1 c.1402A>T p.R468W Missense 9/89 -