Variant ID: 1-55518070-CG-GC

NM_174936.3(PCSK9):c.643_644delinsGC;(p.Arg215Ala)

This variant was identified in 3 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

Publications:

Quantitative characterization of the mechanism of action and impact of a 'proteolysis-permitting' anti-PCSK9 antibody.

Mabs
RJ Hansen, MJ Berna, AE Sperry, TP Beyer, VJ Wroblewski, KM Schroeder, PI Eacho
Publication Date: 2017

Variant appearance in text: PCSK9: R215A
PMID: 27981884
View BVdb publication page


Proteolytic cleavage of antigen extends the durability of an anti-PCSK9 monoclonal antibody.

Journal Of Lipid Research
KM Schroeder, TP Beyer, RJ Hansen, B Han, RT Pickard, VJ Wroblewski, MC Kowala, PI Eacho
Publication Date: 2015-11

Variant appearance in text: PCSK9: R215A
PMID: 26392590
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: R215A
PMID: 23135270
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.643_644delinsGC p.Arg215Ala missense_variant 4/12 -
ENST00000452118.2 c.*287_*288delinsGC - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1464_1465delinsGC - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.43_44delinsGC p.Arg15Ala missense_variant 2/10 -
NM_174936.4 c.643_644delinsGC p.Arg215Ala missense_variant 4/12 -
NR_110451.1 n.302_303delinsGC - non_coding_transcript_exon_variant 2/10 -