MYH6 c.50G>A ;(p.R17H)

Variant ID: 14-23876383-C-T

NM_002471.3(MYH6):c.50G>A;(p.R17H)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Journal Of Cardiovascular Development And Disease
Anfinson, Melissa M; Fitts, Robert H RH; Lough, John W JW; James, Jeanne M JM; Simpson, Pippa M PM; Handler, Stephanie S SS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A
Publication Date: 2022-05-03

Variant appearance in text: MYH6: R17H
PubMed Link: 35621855
Variant Present in the following documents:
  • jcdd-09-00144.pdf
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: MYH6: 50G>A; Arg17His
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: MYH6: 50G>A; Arg17His; rs746646172
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 21
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 24
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 23
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 22
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 20
View BVdb publication page



Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Science Advances
Li, Ziyu Z; Gao, Xiangyu X; Peng, Xinxin X; May Chen, Mei-Ju MJ; Li, Zhe Z; Wei, Bin B; Wen, Xianzi X; Wei, Baoye B; Dong, Yu Y; Bu, Zhaode Z; Wu, Aiwen A; Wu, Qi Q; Tang, Lei L; Li, Zhongwu Z; Liu, Yiqiang Y; Zhang, Li L; Jia, Shuqin S; Zhang, Lianhai L; Shan, Fei F; Zhang, Ji J; Wu, Xiaojiang X; Ji, Xin X; Ji, Ke K; Wu, Xiaolong X; Shi, Jinyao J; Xing, Xiaofang X; Wu, Jianmin J; Lv, Guoqing G; Shen, Lin L; Ji, Xuwo X; Liang, Han H; Ji, Jiafu J
Publication Date: 2020-02

Variant appearance in text: MYH6: R17H
PubMed Link: 32133402
Variant Present in the following documents:
  • aay4211_Table_S2.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: MYH6: R17H
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 46
View BVdb publication page



Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.

Omics : A Journal Of Integrative Biology
Thomford, Nicholas Ekow NE; Dzobo, Kevin K; Yao, Nana Akyaa NA; Chimusa, Emile E; Evans, Jonathan J; Okai, Emmanuel E; Kruszka, Paul P; Muenke, Maximilian M; Awandare, Gordon G; Wonkam, Ambroise A; Dandara, Collet C
Publication Date: 2018-05

Variant appearance in text: MYH6: 50G>A; R17H
PubMed Link: 29762087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive immunoproteogenomic analyses of malignant pleural mesothelioma.

Jci Insight
Lee, Hyun-Sung HS; Jang, Hee-Jin HJ; Choi, Jong Min JM; Zhang, Jun J; de Rosen, Veronica Lenge VL; Wheeler, Thomas M TM; Lee, Ju-Seog JS; Tu, Thuydung T; Jindra, Peter T PT; Kerman, Ronald H RH; Jung, Sung Yun SY; Kheradmand, Farrah F; Sugarbaker, David J DJ; Burt, Bryan M BM
Publication Date: 2018-04-05

Variant appearance in text: MYH6: R17H
PubMed Link: 29618661
Variant Present in the following documents:
  • jciinsight-3-98575-s002.xlsx, sheet 1
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: MYH6: 50G>A; R17H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.

European Journal Of Human Genetics : Ejhg
El Malti, Rajae R; Liu, Hui H; Doray, Bérénice B; Thauvin, Christel C; Maltret, Alice A; Dauphin, Claire C; Gonçalves-Rocha, Miguel M; Teboul, Michel M; Blanchet, Patricia P; Roume, Joëlle J; Gronier, Céline C; Ducreux, Corinne C; Veyrier, Magali M; Marçon, François F; Acar, Philippe P; Lusson, Jean-René JR; Levy, Marilyne M; Beyler, Constance C; Vigneron, Jacqueline J; Cordier-Alex, Marie-Pierre MP; Heitz, François F; Sanlaville, Damien D; Bonnet, Damien D; Bouvagnet, Patrice P
Publication Date: 2016-02

Variant appearance in text: MYH6: Arg17His
PubMed Link: 26014430
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heavy and light roles: myosin in the morphogenesis of the heart.

Cellular And Molecular Life Sciences : Cmls
England, Jennifer J; Loughna, Siobhan S
Publication Date: 2013-04

Variant appearance in text: MYH6: R17H
PubMed Link: 22955375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Plos One
Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C
Publication Date: 2011

Variant appearance in text: MYH6: 50G>A; R17H
PubMed Link: 22194935
Variant Present in the following documents:
  • Main text
  • pone.0028872.pdf
  • pone.0028872.s001.pdf
View BVdb publication page