Variant ID: 1-55509585-C-T

NM_174936.3(PCSK9):c.277C>T;(p.Arg93Cys)

This variant was identified in 13 publications




Publications:


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

Lipids In Health And Disease
C Lee, Y Cui, J Song, S Li, F Zhang, M Wu, L Li, D Hu, H Chen
Publication Date: 2019-04-11

Variant appearance in text: PCSK9: 277C>T; Arg93Cys
PMID: 30971288
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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: rs151193009
PMID: 30779729
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The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Scientific Reports
S Moon, YJ Kim, S Han, MY Hwang, DM Shin, MY Park, Y Lu, K Yoon, HM Jang, YK Kim, TJ Park, DS Song, JK Park, JE Lee, BJ Kim
Publication Date: 2019-02-04

Variant appearance in text: rs151193009
PMID: 30718733
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Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

International Journal Of Molecular Medicine
Y Yamada, K Kato, M Oguri, H Horibe, T Fujimaki, Y Yasukochi, I Takeuchi, J Sakuma
Publication Date: 2019-01

Variant appearance in text: PCSK9: R93C; rs151193009
PMID: 30365130
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Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese.

Scientific Reports
T Tajima, H Morita, K Ito, T Yamazaki, M Kubo, I Komuro, Y Momozawa
Publication Date: 2018-05-25

Variant appearance in text: PCSK9: R93C
PMID: 29802317
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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
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: R93C
PMID: 29259136
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Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
Publication Date: 2017-12

Variant appearance in text: PCSK9: Arg93Cys; rs151193009
PMID: 29083407
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Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
CJ Lee, Y Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee
Publication Date: 2017

Variant appearance in text: PCSK9: R93C; rs151193009
PMID: 29036232
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Heparan sulfate proteoglycans present PCSK9 to the LDL receptor.

Nature Communications
C Gustafsen, D Olsen, J Vilstrup, S Lund, A Reinhardt, N Wellner, T Larsen, CBF Andersen, K Weyer, JP Li, PH Seeberger, S Thirup, P Madsen, S Glerup
Publication Date: 2017-09-11

Variant appearance in text: PCSK9: R93C
PMID: 28894089
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Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.

Oncotarget
Y Yamada, J Sakuma, I Takeuchi, Y Yasukochi, K Kato, M Oguri, T Fujimaki, H Horibe, M Muramatsu, M Sawabe, Y Fujiwara, Y Taniguchi, S Obuchi, H Kawai, S Shinkai, S Mori, T Arai, M Tanaka
Publication Date: 2017-06-13

Variant appearance in text: PCSK9: R93C; rs151193009
PMID: 28473662
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Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications
CS Tang, H Zhang, CY Cheung, M Xu, JC Ho, W Zhou, SS Cherny, Y Zhang, O Holmen, KW Au, H Yu, L Xu, J Jia, RM Porsch, L Sun, W Xu, H Zheng, LY Wong, Y Mu, J Dou, CH Fong, S Wang, X Hong, L Dong, Y Liao, J Wang, LS Lam, X Su, H Yan, ML Yang, J Chen, CW Siu, G Xie, YC Woo, Y Wu, KC Tan, K Hveem, BM Cheung, S Zöllner, A Xu, Y Eugene Chen, CQ Jiang, Y Zhang, TH Lam, SK Ganesh, Y Huo, PC Sham, KS Lam, CJ Willer, HF Tse, W Gao
Publication Date: 2015-12-22

Variant appearance in text: PCSK9: Arg93Cys; rs151193009
PMID: 26690388
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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
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: R93C
PMID: 26195630
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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
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chrétien
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: R93C
PMID: 23663650
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.277C>T p.Arg93Cys missense_variant 2/12 -
ENST00000452118.2 c.277C>T p.Arg93Cys missense_variant 2/6 -
ENST00000543384.1 c.-78+3509C>T - intron_variant - 1/9
NM_174936.4 c.277C>T p.Arg93Cys missense_variant 2/12 -
NR_110451.1 n.182+3509C>T - intron_variant,non_coding_transcript_variant - 1/9