Variant ID: 1-55509585-C-T

NM_174936.3(PCSK9):c.277C>T;(p.R93C)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


The R93C Variant of PCSK9 Reduces the Risk of Premature MI in a Chinese Han Population.

Frontiers In Genetics
Yang, Lincheng L; Pu, Tian T; Zhang, Yan Y; Yan, Hua H; Yu, Haiyi H; Gao, Wei W
Publication Date: 2022

Variant appearance in text: PCSK9: R93C; rs151193009
PubMed Link: 35480303
Variant Present in the following documents:
  • fgene-13-875269.pdf
View BVdb publication page



Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.

Clinical And Translational Medicine
Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X
Publication Date: 2022-03

Variant appearance in text: PCSK9: 277C>T; Arg93Cys
PubMed Link: 35343078
Variant Present in the following documents:
  • CTM2-12-e773-s001.pdf
View BVdb publication page



Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021

Variant appearance in text: PCSK9: R93C
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
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PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: PCSK9: R93C; rs151193009
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart
Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-07

Variant appearance in text: PCSK9: 277C>T; Arg93Cys; rs151193009
PubMed Link: 34341098
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: R93C
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV
Publication Date: 2020-05-14

Variant appearance in text: PCSK9: Arg93Cys
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease
Lee, Chongyou C; Cui, Yuxia Y; Song, Junxian J; Li, Sufang S; Zhang, Feng F; Wu, Manyan M; Li, Long L; Hu, Dan D; Chen, Hong H
Publication Date: 2019-04-11

Variant appearance in text: PCSK9: 277C>T; Arg93Cys
PubMed Link: 30971288
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: rs151193009
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Scientific Reports
Moon, Sanghoon S; Kim, Young Jin YJ; Han, Sohee S; Hwang, Mi Yeong MY; Shin, Dong Mun DM; Park, Min Young MY; Lu, Yontao Y; Yoon, Kyungheon K; Jang, Hye-Mi HM; Kim, Yun Kyoung YK; Park, Tae-Joon TJ; Song, Dae Sub DS; Park, Jae Kyung JK; Lee, Jong-Eun JE; Kim, Bong-Jo BJ
Publication Date: 2019-02-04

Variant appearance in text: rs151193009
PubMed Link: 30718733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

International Journal Of Molecular Medicine
Yamada, Yoshiji Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Yasukochi, Yoshiki Y; Takeuchi, Ichiro I; Sakuma, Jun J
Publication Date: 2019-01

Variant appearance in text: PCSK9: R93C; rs151193009
PubMed Link: 30365130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese.

Scientific Reports
Tajima, Tomoyuki T; Morita, Hiroyuki H; Ito, Kaoru K; Yamazaki, Tsutomu T; Kubo, Michiaki M; Komuro, Issei I; Momozawa, Yukihide Y
Publication Date: 2018-05-25

Variant appearance in text: PCSK9: R93C
PubMed Link: 29802317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: R93C
PubMed Link: 29259136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
Lu, Xiangfeng X; Peloso, Gina M GM; Liu, Dajiang J DJ; Wu, Ying Y; Zhang, He H; Zhou, Wei W; Li, Jun J; Tang, Clara Sze-Man CS; Dorajoo, Rajkumar R; Li, Huaixing H; Long, Jirong J; Guo, Xiuqing X; Xu, Ming M; Spracklen, Cassandra N CN; Chen, Yang Y; Liu, Xuezhen X; Zhang, Yan Y; Khor, Chiea Chuen CC; Liu, Jianjun J; Sun, Liang L; Wang, Laiyuan L; Gao, Yu-Tang YT; Hu, Yao Y; Yu, Kuai K; Wang, Yiqin Y; Cheung, Chloe Yu Yan CYY; Wang, Feijie F; Huang, Jianfeng J; Fan, Qiao Q; Cai, Qiuyin Q; Chen, Shufeng S; Shi, Jinxiu J; Yang, Xueli X; Zhao, Wanting W; Sheu, Wayne H-H WH; Cherny, Stacey Shawn SS; He, Meian M; Feranil, Alan B AB; Adair, Linda S LS; Gordon-Larsen, Penny P; Du, Shufa S; Varma, Rohit R; Chen, Yii-Der Ida YI; Shu, Xiao-Ou XO; Lam, Karen Siu Ling KSL; Wong, Tien Yin TY; Ganesh, Santhi K SK; Mo, Zengnan Z; Hveem, Kristian K; Fritsche, Lars G LG; Nielsen, Jonas Bille JB; Tse, Hung-Fat HF; Huo, Yong Y; Cheng, Ching-Yu CY; Chen, Y Eugene YE; Zheng, Wei W; Tai, E Shyong ES; Gao, Wei W; Lin, Xu X; Huang, Wei W; Abecasis, Goncalo G; , ; Kathiresan, Sekar S; Mohlke, Karen L KL; Wu, Tangchun T; Sham, Pak Chung PC; Gu, Dongfeng D; Willer, Cristen J CJ
Publication Date: 2017-12

Variant appearance in text: PCSK9: Arg93Cys; rs151193009
PubMed Link: 29083407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017

Variant appearance in text: PCSK9: R93C; rs151193009
PubMed Link: 29036232
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heparan sulfate proteoglycans present PCSK9 to the LDL receptor.

Nature Communications
Gustafsen, Camilla C; Olsen, Ditte D; Vilstrup, Joachim J; Lund, Signe S; Reinhardt, Anika A; Wellner, Niels N; Larsen, Torben T; Andersen, Christian B F CBF; Weyer, Kathrin K; Li, Jin-Ping JP; Seeberger, Peter H PH; Thirup, Søren S; Madsen, Peder P; Glerup, Simon S
Publication Date: 2017-09-11

Variant appearance in text: PCSK9: R93C
PubMed Link: 28894089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.

Oncotarget
Yamada, Yoshiji Y; Sakuma, Jun J; Takeuchi, Ichiro I; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Muramatsu, Masaaki M; Sawabe, Motoji M; Fujiwara, Yoshinori Y; Taniguchi, Yu Y; Obuchi, Shuichi S; Kawai, Hisashi H; Shinkai, Shoji S; Mori, Seijiro S; Arai, Tomio T; Tanaka, Masashi M
Publication Date: 2017-06-13

Variant appearance in text: PCSK9: R93C; rs151193009
PubMed Link: 28473662
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications
Tang, Clara S CS; Zhang, He H; Cheung, Chloe Y Y CY; Xu, Ming M; Ho, Jenny C Y JC; Zhou, Wei W; Cherny, Stacey S SS; Zhang, Yan Y; Holmen, Oddgeir O; Au, Ka-Wing KW; Yu, Haiyi H; Xu, Lin L; Jia, Jia J; Porsch, Robert M RM; Sun, Lijie L; Xu, Weixian W; Zheng, Huiping H; Wong, Lai-Yung LY; Mu, Yiming Y; Dou, Jingtao J; Fong, Carol H Y CH; Wang, Shuyu S; Hong, Xueyu X; Dong, Liguang L; Liao, Yanhua Y; Wang, Jiansong J; Lam, Levina S M LS; Su, Xi X; Yan, Hua H; Yang, Min-Lee ML; Chen, Jin J; Siu, Chung-Wah CW; Xie, Gaoqiang G; Woo, Yu-Cho YC; Wu, Yangfeng Y; Tan, Kathryn C B KC; Hveem, Kristian K; Cheung, Bernard M Y BM; Zöllner, Sebastian S; Xu, Aimin A; Eugene Chen, Y Y; Jiang, Chao Qiang CQ; Zhang, Youyi Y; Lam, Tai-Hing TH; Ganesh, Santhi K SK; Huo, Yong Y; Sham, Pak C PC; Lam, Karen S L KS; Willer, Cristen J CJ; Tse, Hung-Fat HF; Gao, Wei W
Publication Date: 2015-12-22

Variant appearance in text: PCSK9: R93C; rs151193009
PubMed Link: 26690388
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: R93C
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
Mayne, Janice J; Ooi, Teik Chye TC; Raymond, Angela A; Cousins, Marion M; Bernier, Lise L; Dewpura, Thilina T; Sirois, Francine F; Mbikay, Majambu M; Davignon, Jean J; Chrétien, Michel M
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: R93C
PubMed Link: 23663650
Variant Present in the following documents:
  • Main text
View BVdb publication page