Variant ID: 1-55509594-C-T

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

This variant was identified in 4 publications




Publications:


PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: R96C
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
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 Rabès, 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; R96C; rs185392267
PubMed Link: 29386597
Variant Present in the following documents:
  • 41598_2018_20281_MOESM1_ESM.pdf
  • aaaaaMain text
View BVdb publication page



Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
Publication Date: 2015-12

Variant appearance in text: PCSK9: Arg96Cys
PubMed Link: 26374825
Variant Present in the following documents:
  • hcg-8-823-s001.pdf
  • hcg-8-823-s003.pdf
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