MYBPC3 c.844C>T ;(p.R282W)

Variant ID: 11-47369209-G-A

NM_000256.3(MYBPC3):c.844C>T;(p.R282W)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


A high-throughput fluorescence lifetime-based assay to detect binding of myosin-binding protein C to F-actin.

The Journal Of General Physiology
Bunch, Thomas A TA; Lepak, Victoria C VC; Bortz, Kellan M KM; Colson, Brett A BA
Publication Date: 2021-03-01

Variant appearance in text: cMyBP-C: R282W
PubMed Link: 33600558
Variant Present in the following documents:
  • Main text
  • JGP_202012707.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: MYBPC3: R282W
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYBPC3: 844C>T; Arg282Trp
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: MYBPC3: R282W
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Interaction between cardiac myosin-binding protein C and formin Fhod3.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Matsuyama, Sho S; Kage, Yohko Y; Fujimoto, Noriko N; Ushijima, Tomoki T; Tsuruda, Toshihiro T; Kitamura, Kazuo K; Shiose, Akira A; Asada, Yujiro Y; Sumimoto, Hideki H; Takeya, Ryu R
Publication Date: 2018-05-08

Variant appearance in text: cMyBP-C: R282W
PubMed Link: 29686099
Variant Present in the following documents:
  • Main text
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: MYBPC3: 844C>T; Arg282Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MYBPC3: 844C>T; R282W
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: CMH4: R282W
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: MYBPC3: R282W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: MYBPC3: R282W
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Determination of the critical residues responsible for cardiac myosin binding protein C's interactions.

Journal Of Molecular And Cellular Cardiology
Bhuiyan, Md Shenuarin MS; Gulick, James J; Osinska, Hanna H; Gupta, Manish M; Robbins, Jeffrey J
Publication Date: 2012-12

Variant appearance in text: cMyBP-C: R282W
PubMed Link: 22982234
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac myosin binding protein-C phosphorylation in a {beta}-myosin heavy chain background.

Circulation
Sadayappan, Sakthivel S; Gulick, James J; Klevitsky, Raisa R; Lorenz, John N JN; Sargent, Michelle M; Molkentin, Jeffery D JD; Robbins, Jeffrey J
Publication Date: 2009-03-10

Variant appearance in text: cMyBP-C: Arg282Trp
PubMed Link: 19237661
Variant Present in the following documents:
  • Main text
View BVdb publication page