Variant ID: 1-55509594-C-T

NM_174936.3(PCSK9):c.286C>T;(p.R96C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: PCSK9: 286C>T; Arg96Cys
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx
View BVdb publication page



Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications
Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G
Publication Date: 2021-10-06

Variant appearance in text: PCSK9: Arg96Cys
PubMed Link: 34615865
Variant Present in the following documents:
  • 41467_2021_26114_MOESM2_ESM.pdf
View BVdb publication page



Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

Arteriosclerosis, Thrombosis, And Vascular Biology
Björnsson, Eythór E; Thorgeirsson, Guðmundur G; Helgadóttir, Anna A; Thorleifsson, Guðmar G; Sveinbjörnsson, Garðar G; Kristmundsdóttir, Snaedís S; Jónsson, Hákon H; Jónasdóttir, Aðalbjörg A; Jónasdóttir, Áslaug Á; Sigurðsson, Ásgeir Á; Guðnason, Thórarinn T; Ólafsson, Ísleifur Í; Sigurðsson, Emil L EL; Sigurðardóttir, Ólöf Ó; Viðarsson, Brynjar B; Baldvinsson, Magnús M; Bjarnason, Ragnar R; Danielsen, Ragnar R; Matthíasson, Stefán E SE; Thórarinsson, Björn L BL; Grétarsdóttir, Sólveig S; Steinthórsdóttir, Valgerður V; Halldórsson, Bjarni V BV; Andersen, Karl K; Arnar, Davíð O DO; Jónsdóttir, Ingileif I; Guðbjartsson, Daníel F DF; Hólm, Hilma H; Thorsteinsdóttir, Unnur U; Sulem, Patrick P; Stefánsson, Kári K
Publication Date: 2021-10

Variant appearance in text: PCSK9: Arg96Cys
PubMed Link: 34407635
Variant Present in the following documents:
  • atv-41-2616-s001.pdf
  • atv-41-2616.pdf
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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: PCSK9: Arg96Cys
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
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
Marceau West, Rachel R; Lu, Wenbin W; Rotroff, Daniel M DM; Kuenemann, Melaine A MA; Chang, Sheng-Mao SM; Wu, Michael C MC; Wagner, Michael J MJ; Buse, John B JB; Motsinger-Reif, Alison A AA; Fourches, Denis D; Tzeng, Jung-Ying JY
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
Elbitar, Sandy S; Susan-Resiga, Delia D; Ghaleb, Youmna Y; El Khoury, Petra P; Peloso, Gina G; Stitziel, Nathan N; Rabès, Jean-Pierre JP; Carreau, Valérie V; Hamelin, Josée J; Ben-Djoudi-Ouadda, Ali A; Bruckert, Eric E; Boileau, Catherine C; Seidah, Nabil G NG; Varret, Mathilde M; Abifadel, Marianne M
Publication Date: 2018-01-31

Variant appearance in text: PCSK9: 286C>T; R96C; rs185392267
PubMed Link: 29386597
Variant Present in the following documents:
  • Main text
View BVdb publication page