DSC2 c.2368_2370del ;(p.G790del)

Variant ID: 18-28648997-GTCC-G

NM_024422.3(DSC2):c.2368_2370del;(p.G790del)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: DSC2: 2368_2370del
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s9_suppst9.xlsx, sheet 17
  • can-22-2224_table_s9_suppst9.xlsx, sheet 3
View BVdb publication page



Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

International Journal Of Molecular Sciences
Vermeer, Mathilde C S C MCSC; Andrei, Daniela D; Marsili, Luisa L; van Tintelen, J Peter JP; Silljé, Herman H W HHW; van den Berg, Maarten P MP; van der Meer, Peter P; Bolling, Maria C MC
Publication Date: 2022-09-15

Variant appearance in text: DSC2: G790del
PubMed Link: 36142674
Variant Present in the following documents:
  • Main text
  • ijms-23-10765.pdf
View BVdb publication page



Arrhythmogenic Cardiomyopathy: Exercise Pitfalls, Role of Connexin-43, and Moving beyond Antiarrhythmics.

International Journal Of Molecular Sciences
Coscarella, Isabella Leite IL; Landim-Vieira, Maicon M; Pinto, José Renato JR; Chelko, Stephen P SP
Publication Date: 2022-08-06

Variant appearance in text: DSC2: G790del
PubMed Link: 35955883
Variant Present in the following documents:
  • Main text
  • ijms-23-08753.pdf
View BVdb publication page



Decreased Expression of Plakophilin-2 and αT-Catenin in Arrhythmogenic Right Ventricular Cardiomyopathy: Potential Markers for Diagnosis.

International Journal Of Molecular Sciences
Hung, Pei-Fang PF; Chung, Fa-Po FP; Hung, Chung-Lieh CL; Lin, Yenn-Jiang YJ; Kuo, Tzu-Ting TT; Liao, Jo-Nan JN; Chen, Yun-Yu YY; Pan, Chih-Hsin CH; Shaw, Kai-Ping KP; Chen, Shih-Ann SA
Publication Date: 2022-05-16

Variant appearance in text: DSC2: Gly790del
PubMed Link: 35628349
Variant Present in the following documents:
  • Main text
  • ijms-23-05529.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: DSC2: 2368_2370del; G790del
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine
He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G
Publication Date: 2021-09-21

Variant appearance in text: DSC2: G790del
PubMed Link: 34622229
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences
Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q
Publication Date: 2021

Variant appearance in text: DSC2: 2368_2370delGGA; Gly790del
PubMed Link: 34104084
Variant Present in the following documents:
  • ijmsv18p2532s2.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: DSC2: 2368_2370delGGA; Gly790del
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: DSC2: 2368_2370delGGA; G790del
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



G790del mutation in DSC2 alone is insufficient to develop the pathogenesis of ARVC in a mouse model.

Biochemistry And Biophysics Reports
Hamada, Yoriomi Y; Yamamoto, Takeshi T; Nakamura, Yoshihide Y; Sufu-Shimizu, Yoko Y; Nanno, Takuma T; Fukuda, Masakazu M; Ono, Makoto M; Oda, Tesuro T; Okuda, Shinichi S; Ueyama, Takeshi T; Kobayashi, Shigeki S; Yano, Masafumi M
Publication Date: 2020-03

Variant appearance in text: DSC2: G790del
PubMed Link: 31872082
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.

Molecular Genetics & Genomic Medicine
Xu, Jing J; Wang, Lu L; Liu, Xiangdong X; Dai, Qiming Q
Publication Date: 2019-10

Variant appearance in text: DSC2: Gly790del
PubMed Link: 31464081
Variant Present in the following documents:
  • Main text
  • MGG3-7-e00941.pdf
View BVdb publication page



Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Plos One
Fedida, Joel J; Fressart, Veronique V; Charron, Philippe P; Surget, Elodie E; Hery, Tiphaine T; Richard, Pascale P; Donal, Erwan E; Keren, Boris B; Duthoit, Guillaume G; Hidden-Lucet, Françoise F; Villard, Eric E; Gandjbakhch, Estelle E
Publication Date: 2017

Variant appearance in text: DSC2: Gly790del
PubMed Link: 28767663
Variant Present in the following documents:
  • Main text
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: DSC2: 2368_2370del
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
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: DSC2: 2368_2370delGGA; Gly790del
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Haggerty, Christopher M CM; James, Cynthia A CA; Calkins, Hugh H; Tichnell, Crystal C; Leader, Joseph B JB; Hartzel, Dustin N DN; Nevius, Christopher D CD; Pendergrass, Sarah A SA; Person, Thomas N TN; Schwartz, Marci M; Ritchie, Marylyn D MD; Carey, David J DJ; Ledbetter, David H DH; Williams, Marc S MS; Dewey, Frederick E FE; Lopez, Alexander A; Penn, John J; Overton, John D JD; Reid, Jeffrey G JG; Lebo, Matthew M; Mason-Suares, Heather H; Austin-Tse, Christina C; Rehm, Heidi L HL; Delisle, Brian P BP; Makowski, Daniel J DJ; Mehra, Vishal C VC; Murray, Michael F MF; Fornwalt, Brandon K BK
Publication Date: 2017-11

Variant appearance in text: DSC2: 2368_2370delGGA; Gly790del
PubMed Link: 28471438
Variant Present in the following documents:
  • Main text
  • nihms867695.pdf
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: DSC2: 2368_2370delGGA; G790delG
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.

Brain Pathology (Zurich, Switzerland)
Hata, Yukiko Y; Yoshida, Koji K; Kinoshita, Koshi K; Nishida, Naoki N
Publication Date: 2017-05

Variant appearance in text: DSC2: Gly790del
PubMed Link: 27135274
Variant Present in the following documents:
  • Main text
View BVdb publication page