Variant ID: 1-55518079-AG-GC


This variant was identified in 2 publications


The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Drug Design, Development And Therapy
S Poirier, G Mayer
Publication Date: 2013

Variant appearance in text: PCSK9: R218A
PMID: 24115837
View BVdb publication page

Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

The Journal Of Biological Chemistry
MT Lipari, W Li, P Moran, M Kong-Beltran, T Sai, J Lai, SJ Lin, G Kolumam, J Zavala-Solorio, A Izrael-Tomasevic, D Arnott, J Wang, AS Peterson, D Kirchhofer
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R218A
PMID: 23135270
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.652_653delinsGC p.Arg218Ala missense_variant 4/12 -
ENST00000452118.2 c.*296_*297delinsGC - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1473_1474delinsGC - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.52_53delinsGC p.Arg18Ala missense_variant 2/10 -
NM_174936.4 c.652_653delinsGC p.Arg218Ala missense_variant 4/12 -
NR_110451.1 n.311_312delinsGC - non_coding_transcript_exon_variant 2/10 -