PCSK9 c.1486C>T ;(p.R496W)

Variant ID: 1-55524303-C-T

NM_174936.3(PCSK9):c.1486C>T;(p.R496W)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Cells
Alannan, Malak M; Seidah, Nabil G NG; Merched, Aksam J AJ
Publication Date: 2022-12-19

Variant appearance in text: PCSK9: R496W
PubMed Link: 36552895
Variant Present in the following documents:
  • Main text
  • cells-11-04132.pdf
View BVdb publication page



Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

International Journal Of Molecular Sciences
Razman, Aimi Zafira AZ; Chua, Yung-An YA; Mohd Kasim, Noor Alicezah NA; Al-Khateeb, Alyaa A; Sheikh Abdul Kadir, Siti Hamimah SH; Jusoh, Siti Azma SA; Nawawi, Hapizah H; ,
Publication Date: 2022-11-29

Variant appearance in text: PCSK9: R496W
PubMed Link: 36499307
Variant Present in the following documents:
  • Main text
  • ijms-23-14971.pdf
View BVdb publication page



Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Frontiers In Physiology
Sarkar, Samantha K SK; Matyas, Angela A; Asikhia, Ikhuosho I; Hu, Zhenkun Z; Golder, Mia M; Beehler, Kaitlyn K; Kosenko, Tanja T; Lagace, Thomas A TA
Publication Date: 2022

Variant appearance in text: PCSK9: R496W
PubMed Link: 36187800
Variant Present in the following documents:
  • Main text
  • fphys-13-960272.pdf
View BVdb publication page



Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: PCSK9: 1486C>T; Arg496Trp; rs374603772
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association
Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M
Publication Date: 2022-08-16

Variant appearance in text: PCSK9: 1486C>T; Arg496Trp; rs374603772
PubMed Link: 35929461
Variant Present in the following documents:
  • JAH3-11-e025232.pdf
  • JAH3-11-e025232-s001.pdf
View BVdb publication page



Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

Jama Network Open
Fahed, Akl C AC; Wang, Minxian M; Patel, Aniruddh P AP; Ajufo, Ezimamaka E; Maamari, Dimitri J DJ; Aragam, Krishna G KG; Brockman, Deanna G DG; Vosburg, Trish T; Ellinor, Patrick T PT; Ng, Kenney K; Khera, Amit V AV
Publication Date: 2022-03-01

Variant appearance in text: PCSK9: Arg496Trp
PubMed Link: 35294538
Variant Present in the following documents:
  • jamanetwopen-e222687-s001.pdf
View BVdb publication page



Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation
Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL
Publication Date: 2022-08

Variant appearance in text: PCSK9: 1486C>T; Arg496Trp
PubMed Link: 34923710
Variant Present in the following documents:
  • HUMU-43-1114-s002.xlsx, sheet 1
View BVdb publication page



Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2022

Variant appearance in text: PCSK9: 1486C>T
PubMed Link: 34875256
Variant Present in the following documents:
  • Main text
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: R496W
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.

Journal Of Atherosclerosis And Thrombosis
Harada-Shiba, Mariko M; Ako, Junya J; Hirayama, Atsushi A; Nakamura, Masato M; Nohara, Atsushi A; Sato, Kayoko K; Murakami, Yoshitaka Y; Koshida, Ryusuke R; Ozaki, Asuka A; Arai, Hidenori H
Publication Date: 2022-08-01

Variant appearance in text: PCSK9: R496W
PubMed Link: 34526433
Variant Present in the following documents:
  • jat-29-1201.pdf
View BVdb publication page



Case-finding and genetic testing for familial hypercholesterolaemia in primary care.

Heart (British Cardiac Society)
Qureshi, Nadeem N; Akyea, Ralph Kwame RK; Dutton, Brittany B; Humphries, Steve E SE; Abdul Hamid, Hasidah H; Condon, Laura L; Weng, Stephen F SF; Kai, Joe J; ,
Publication Date: 2021-12

Variant appearance in text: PCSK9: Arg496Trp
PubMed Link: 34521694
Variant Present in the following documents:
  • heartjnl-2021-319742supp001.pdf
View BVdb publication page



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: R496W; rs374603772
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
View BVdb publication page



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: 1486C>T; Arg496Trp; rs374603772
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: PCSK9: 1486C>T; R496*
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: PCSK9: 1486C>T; R496*
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association
Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S
Publication Date: 2021-02-16

Variant appearance in text: PCSK9: Arg496Trp
PubMed Link: 33533259
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R496W
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
View BVdb publication page



Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS
Publication Date: 2021-01

Variant appearance in text: PCSK9: 1486C>T; Arg496Trp; rs374603772
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
  • Supplementary_Data.pdf
  • br-14-01-01391.pdf
View BVdb publication page



PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Frontiers In Cardiovascular Medicine
Li, Yan-Yan YY; Wang, Hui H; Yang, Xin-Xing XX; Geng, Hong-Yu HY; Gong, Ge G; Lu, Xin-Zheng XZ
Publication Date: 2020

Variant appearance in text: PCSK9: R496W
PubMed Link: 33244470
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: R496W; rs374603772
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Nature Communications
Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV
Publication Date: 2020-08-20

Variant appearance in text: PCSK9: Arg496Trp
PubMed Link: 32820175
Variant Present in the following documents:
  • 41467_2020_17374_MOESM1_ESM.pdf
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: PCSK9: 1486C>T; R496W
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 3
  • 41467_2020_16067_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Moldovan, Valeriu V; Banescu, Claudia C; Dobreanu, Minodora M
Publication Date: 2020-02

Variant appearance in text: PCSK9: R496W; rs374603772
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
View BVdb publication page



In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.

International Journal Of Molecular Sciences
Martin, William R WR; Lightstone, Felice C FC; Cheng, Feixiong F
Publication Date: 2020-02-25

Variant appearance in text: PCSK9: Arg496Trp
PubMed Link: 32106405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: PCSK9: 1486C>T; Arg496Trp
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry
Sarkar, Samantha K SK; Foo, Alexander C Y ACY; Matyas, Angela A; Asikhia, Ikhuosho I; Kosenko, Tanja T; Goto, Natalie K NK; Vergara-Jaque, Ariela A; Lagace, Thomas A TA
Publication Date: 2020-02-21

Variant appearance in text: PCSK9: R496W
PubMed Link: 31949048
Variant Present in the following documents:
  • Main text
  • zbc2285.pdf
  • supp_RA119.010221_154343_2_supp_459054_q45vbg.pdf
View BVdb publication page



Di'ao Xinxuekang Capsule, a Chinese Medicinal Product, Decreases Serum Lipids Levels in High-Fat Diet-Fed ApoE-/- Mice by Downregulating PCSK9.

Frontiers In Pharmacology
Qu, Liping L; Li, Didi D; Gao, Xiaoping X; Li, Yongwei Y; Wu, Jianming J; Zou, Wenjun W
Publication Date: 2018

Variant appearance in text: PCSK9: R496W; rs374603772
PubMed Link: 30443213
Variant Present in the following documents:
  • fphar-09-01170.pdf
View BVdb publication page



Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Eroğlu, Zuhal Z; Tetik Vardarlı, Aslı A; Düzgün, Zekeriya Z; Gündüz, Cumhur C; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M
Publication Date: 2018-05

Variant appearance in text: PCSK9: R496W; rs374603772
PubMed Link: 29724976
Variant Present in the following documents:
  • Main text
  • AJC-19-334.pdf
View BVdb publication page



PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Kaya, Esra E; Kayıkçıoğlu, Meral M; Tetik Vardarlı, Aslı A; Eroğlu, Zuhal Z; Payzın, Serdar S; Can, Levent L
Publication Date: 2017-10

Variant appearance in text: PCSK9: R496W; rs374603772
PubMed Link: 28777095
Variant Present in the following documents:
  • Main text
  • AJC-18-266.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PCSK9: 1486C>T; Arg496Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
Poirier, Steve S; Hamouda, Hocine Ait HA; Villeneuve, Louis L; Demers, Annie A; Mayer, Gaétan G
Publication Date: 2016

Variant appearance in text: PCSK9: R496W
PubMed Link: 27280970
Variant Present in the following documents:
  • Main text
  • pone.0157230.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PCSK9: R496W
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HCHOLA3: R496W
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PCSK9: R496W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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: R496W
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Profile of evolocumab and its potential in the treatment of hyperlipidemia.

Drug Design, Development And Therapy
Cicero, Arrigo F G AF; Colletti, Alessandro A; Borghi, Claudio C
Publication Date: 2015

Variant appearance in text: PCSK9: Arg496Trp
PubMed Link: 26109850
Variant Present in the following documents:
  • dddt-9-3073.pdf
View BVdb publication page



Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

The Journal Of Biological Chemistry
Ly, Kévin K; Saavedra, Yascara Grisel Luna YG; Canuel, Maryssa M; Routhier, Sophie S; Desjardins, Roxane R; Hamelin, Josée J; Mayne, Janice J; Lazure, Claude C; Seidah, Nabil G NG; Day, Robert R
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: R496W
PubMed Link: 24808179
Variant Present in the following documents:
  • Main text
View BVdb publication page



The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
Saavedra, Yascara Grisel Luna YG; Day, Robert R; Seidah, Nabil G NG
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R496W
PubMed Link: 23105118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: PCSK9: R496W
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.

Bioinformatics (Oxford, England)
Xin, Fuxiao F; Myers, Steven S; Li, Yong Fuga YF; Cooper, David N DN; Mooney, Sean D SD; Radivojac, Predrag P
Publication Date: 2010-08-15

Variant appearance in text: PCSK9: R496W
PubMed Link: 20551136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews
Burnett, John R JR; Hooper, Amanda J AJ
Publication Date: 2008-02

Variant appearance in text: PCSK9: R496W
PubMed Link: 18566665
Variant Present in the following documents:
  • Main text
View BVdb publication page