PMID: 34356856

PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS, Döring, Yvonne Y, van der Vorst, Emiel P C EPC
2021-07-08

50 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
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 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55505668-C-T PCSK9 c.158C>T p.A53V Missense 1/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
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 -
1-55521681-G-A PCSK9 c.815G>A p.R272Q Missense 6/12 -
8-15978020-C-A MSR1 c.1129G>T p.D377Y Missense 9/10 -
1-55518398-G-A PCSK9 c.733G>A p.A245T Missense 5/12 -
1-55509538-C-T PCSK9 c.230C>T p.T77I Missense 2/12 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518075-C-A PCSK9 c.648C>A p.F216L Missense 4/12 -
1-55518075-C-G PCSK9 c.648C>G p.F216L Missense 4/12 -
1-230822720-A-G COG2 c.1420A>G p.I474V Missense 13/18 -
1-55527213-C-T PCSK9 c.1847C>T p.P616L Missense 11/12 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55523127-G-C PCSK9 c.1120G>C p.D374H Missense 7/12 -
1-55523077-G-A PCSK9 c.1070G>A p.R357H Missense 7/12 -
1-55524304-G-A PCSK9 c.1487G>A p.R496Q Missense 9/12 -
1-55509649-T-C PCSK9 c.341T>C p.V114A Missense 2/12 -
1-55524313-G-A PCSK9 c.1496G>A p.R499H Missense 9/12 -
1-55509624-G-C PCSK9 c.316G>C p.G106R Missense 2/12 -
1-55523811-G-A PCSK9 c.1283G>A p.W428* Nonsense 8/12 -
1-55523812-G-A PCSK9 c.1284G>A p.W428* Nonsense 8/12 -
1-55518371-G-A PCSK9 c.706G>A p.G236S Missense 5/12 -
1-55512250-CAG-GAC PCSK9 c.454_456delCAGinsGAC p.Q152D Missense 3/12 -
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 -
1-55523068-A-T PCSK9 c.1061A>T p.N354I Missense 7/12 -
19-11218152-A-G LDLR c.902A>G p.D301G Missense 6/18 -
1-55512252-G-T PCSK9 c.456G>T p.Q152H Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Q152H Missense 3/12 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -
1-55523828-C-T PCSK9 c.1300C>T p.R434W Missense 8/12 -
1-55525219-G-A PCSK9 c.1564G>A p.A522T Missense 10/12 -
2-21250758-T-C APOB c.2009A>G p.E670G Missense 14/29 -
1-55509585-C-T PCSK9 c.277C>T p.R93C Missense 2/12 -
1-55523163-T-G PCSK9 c.1156T>G p.S386A Missense 7/12 -
19-11217255-CGC-TGG LDLR c.709_711delCGCinsTGG p.R237W Missense 5/18 -
1-55505613-G-T PCSK9 c.103G>T p.D35Y Missense 1/12 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55509552-CT-TA PCSK9 c.244_245delCTinsTA p.L82* Nonsense 2/12 -
1-55509624-G-A PCSK9 c.316G>A p.G106R Missense 2/12 -
1-55505712-CG-C PCSK9 c.202delG p.A68Pfs*15 Frameshift 1/12 -