Variant ID: 1-55509594-C-T

NM_174936.3(PCSK9):c.286C>T;(p.Arg96Cys)

This variant was identified in 2 publications




Publications:


Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: rs185392267
PMID: 30779729
View BVdb publication page



New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports
S Elbitar, D Susan-Resiga, Y Ghaleb, P El Khoury, G Peloso, N Stitziel, JP Rab├Ęs, V Carreau, J Hamelin, A Ben-Djoudi-Ouadda, E Bruckert, C Boileau, NG Seidah, M Varret, M Abifadel
Publication Date: 2018-01-31

Variant appearance in text: PCSK9: 286C>T; Arg96Cys; rs185392267
PMID: 29386597
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.286C>T p.Arg96Cys missense_variant 2/12 -
ENST00000452118.2 c.286C>T p.Arg96Cys missense_variant 2/6 -
ENST00000543384.1 c.-78+3518C>T - intron_variant - 1/9
NM_174936.4 c.286C>T p.Arg96Cys missense_variant 2/12 -
NR_110451.1 n.182+3518C>T - intron_variant,non_coding_transcript_variant - 1/9