PMID: 23951290

PCSK9 prosegment chimera as novel inhibitors of LDLR degradation.

PloS one
YG Saavedra, J Zhang, NG Seidah
2013

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
3-184101353-CT-TA CHRD c.1363_1364delCTinsTA p.Leu455* Nonsense 12/23 -
1-55512250-CA-TG PCSK9 c.454_455delCAinsTG p.Gln152Trp Missense 3/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -