SCN5A c.5275_5276delinsGC ;(p.F1759A)

Variant ID: 3-38592584-AA-GC

NM_000335.4(SCN5A):c.5275_5276delinsGC;(p.F1759A)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Fibroblast growth factor homologous factors serve as a molecular rheostat in tuning arrhythmogenic cardiac late sodium current.

Nature Cardiovascular Research
Chakouri, Nourdine N; Rivas, Sharen S; Roybal, Daniel D; Yang, Lin L; Diaz, Johanna J; Hsu, Allen A; Mahling, Ryan R; Chen, Bi-Xing BX; Owoyemi, Josiah O JO; DiSilvestre, Deborah D; Sirabella, Dario D; Corneo, Barbara B; Tomaselli, Gordon F GF; Dick, Ivy E IE; Marx, Steven O SO; Ben-Johny, Manu M
Publication Date: 2022-05

Variant appearance in text: Nav1.5: F1759A
PubMed Link: 35662881
Variant Present in the following documents:
  • Main text
  • nihms-1795701.pdf
View BVdb publication page



Attenuating persistent sodium current-induced atrial myopathy and fibrillation by preventing mitochondrial oxidative stress.

Jci Insight
Avula, Uma Mahesh R UMR; Dridi, Haikel H; Chen, Bi-Xing BX; Yuan, Qi Q; Katchman, Alexander N AN; Reiken, Steven R SR; Desai, Amar D AD; Parsons, Samantha S; Baksh, Haajra H; Ma, Elaine E; Dasrat, Parmanand P; Ji, Ruiping R; Lin, Yejun Y; Sison, Christine C; Lederer, W Jonathan WJ; Joca, Humberto C HC; Ward, Christopher W CW; Greiser, Maura M; Marks, Andrew R AR; Marx, Steven O SO; Wan, Elaine Y EY
Publication Date: 2021-10-28

Variant appearance in text: SCN5A: F1759A
PubMed Link: 34710060
Variant Present in the following documents:
  • Main text
  • jciinsight-6-147371.pdf
View BVdb publication page



Attenuating persistent sodium current-induced atrial myopathy and fibrillation by preventing mitochondrial oxidative stress.

Jci Insight
Avula, Uma Mahesh R UMR; Dridi, Haikel H; Chen, Bi-Xing BX; Yuan, Qi Q; Katchman, Alexander N AN; Reiken, Steven R SR; Desai, Amar D AD; Parsons, Samantha S; Baksh, Haajra H; Ma, Elaine E; Dasrat, Parmanand P; Ji, Ruiping R; Lin, Yejun Y; Sison, Christine C; Lederer, W Jonathan WJ; Joca, Humberto C HC; Ward, Christopher W CW; Greiser, Maura M; Marks, Andrew R AR; Marx, Steven O SO; Wan, Elaine Y EY
Publication Date: 2021-10-28

Variant appearance in text: SCN5A: F1759A
PubMed Link: 34710060
Variant Present in the following documents:
  • Main text
  • jciinsight-6-147371.pdf
View BVdb publication page



Calmodulin Interactions with Voltage-Gated Sodium Channels.

International Journal Of Molecular Sciences
Wu, Xin X; Hong, Liang L
Publication Date: 2021-09-10

Variant appearance in text: LQT3: F1759A
PubMed Link: 34575961
Variant Present in the following documents:
  • Main text
  • ijms-22-09798.pdf
View BVdb publication page



Theoretical Models and Computational Analysis of Action Potential Dispersion for Cardiac Arrhythmia Risk Stratification.

Frontiers In Cardiovascular Medicine
Avula, Uma Mahesh R UMR; Melki, Lea L; Kushner, Jared S JS; Liang, Stephanie S; Wan, Elaine Y EY
Publication Date: 2021

Variant appearance in text: SCN5A: F1759A
PubMed Link: 33748198
Variant Present in the following documents:
  • Main text
  • fcvm-08-649489.pdf
View BVdb publication page



Structural and Functional Characterization of a Nav1.5-Mitochondrial Couplon.

Circulation Research
Pérez-Hernández, Marta M; Leo-Macias, Alejandra A; Keegan, Sarah S; Jouni, Mariam M; Kim, Joon-Chul JC; Agullo-Pascual, Esperanza E; Vermij, Sarah S; Zhang, Mingliang M; Liang, Feng-Xia FX; Burridge, Paul P; Fenyo, David D; Rothenberg, Eli E; Delmar, Mario M
Publication Date: 2021-02-05

Variant appearance in text: SCN5A: F1759A
PubMed Link: 33342222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fibroblast growth factor homologous factors tune arrhythmogenic late NaV1.5 current in calmodulin binding-deficient channels.

Jci Insight
Abrams, Jeffrey J; Roybal, Daniel D; Chakouri, Nourdine N; Katchman, Alexander N AN; Weinberg, Richard R; Yang, Lin L; Chen, Bi-Xing BX; Zakharov, Sergey I SI; Hennessey, Jessica A JA; Avula, Uma Mahesh R UMR; Diaz, Johanna J; Wang, Chaojian C; Wan, Elaine Y EY; Pitt, Geoffrey S GS; Ben-Johny, Manu M; Marx, Steven O SO
Publication Date: 2020-10-02

Variant appearance in text: SCN5A: F1759A
PubMed Link: 32870823
Variant Present in the following documents:
  • Main text
  • jciinsight-5-141736.pdf
View BVdb publication page



Homocysteine-induced electrical remodeling via the mediation of IP3R1/Nav1.5 signaling pathway.

American Journal Of Translational Research
Han, Lu L; Wu, Aping A; Li, Qing Q; Xia, Zhen Z; Wu, Yanqing Y; Hong, Kui K; Xia, Zirong Z; Li, Juxiang J
Publication Date: 2020

Variant appearance in text: Nav1.5: F1759A
PubMed Link: 32774738
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterogeneity of the action potential duration is required for sustained atrial fibrillation.

Jci Insight
Avula, Uma Mahesh R UMR; Abrams, Jeffrey J; Katchman, Alexander A; Zakharov, Sergey S; Mironov, Sergey S; Bayne, Joseph J; Roybal, Daniel D; Gorti, Anirudh A; Yang, Lin L; Iyer, Vivek V; Waase, Marc M; Saluja, Deepak D; Ciaccio, Edward J EJ; Garan, Hasan H; Marks, Andrew R AR; Marx, Steven O SO; Wan, Elaine Y EY
Publication Date: 2019-04-25

Variant appearance in text: SCN5A: F1759A
PubMed Link: 31021331
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linking Arrhythmias and Adipocytes: Insights, Mechanisms, and Future Directions.

Frontiers In Physiology
Pabon, Maria A MA; Manocha, Kevin K; Cheung, Jim W JW; Lo, James C JC
Publication Date: 2018

Variant appearance in text: SCN5A: F1759A
PubMed Link: 30568603
Variant Present in the following documents:
  • Main text
  • fphys-09-01752.pdf
View BVdb publication page



Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.

Cardiovascular Research
Bondue, Antoine A; Arbustini, Eloisa E; Bianco, Anna A; Ciccarelli, Michele M; Dawson, Dana D; De Rosa, Matteo M; Hamdani, Nazha N; Hilfiker-Kleiner, Denise D; Meder, Benjamin B; Leite-Moreira, Adelino F AF; Thum, Thomas T; Tocchetti, Carlo G CG; Varricchi, Gilda G; Van der Velden, Jolanda J; Walsh, Roddy R; Heymans, Stephane S
Publication Date: 2018-08-01

Variant appearance in text: SCN5A: F1759A
PubMed Link: 29800419
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

Circulation Research
McNally, Elizabeth M EM; Mestroni, Luisa L
Publication Date: 2017-09-15

Variant appearance in text: SCN5A: F1759A
PubMed Link: 28912180
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ion channels, long QT syndrome and arrhythmogenesis in ageing.

Clinical And Experimental Pharmacology & Physiology
Jeevaratnam, Kamalan K; Chadda, Karan R KR; Salvage, Samantha C SC; Valli, Haseeb H; Ahmad, Shiraz S; Grace, Andrew A AA; Huang, Christopher L-H CL
Publication Date: 2017-12

Variant appearance in text: SCN5A: F1759A
PubMed Link: 28024120
Variant Present in the following documents:
  • Main text
  • CEP-44-38.pdf
View BVdb publication page



Murine Electrophysiological Models of Cardiac Arrhythmogenesis.

Physiological Reviews
Huang, Christopher L-H CL
Publication Date: 2017-01

Variant appearance in text: Nav1.5: F1759A
PubMed Link: 27974512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aberrant sodium influx causes cardiomyopathy and atrial fibrillation in mice.

The Journal Of Clinical Investigation
Wan, Elaine E; Abrams, Jeffrey J; Weinberg, Richard L RL; Katchman, Alexander N AN; Bayne, Joseph J; Zakharov, Sergey I SI; Yang, Lin L; Morrow, John P JP; Garan, Hasan H; Marx, Steven O SO
Publication Date: 2016-01

Variant appearance in text: SCN5A: F1759A
PubMed Link: 26595809
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reporting sodium channel activity using calcium flux: pharmacological promiscuity of cardiac Nav1.5.

Molecular Pharmacology
Zhang, Hongkang H; Zou, Beiyan B; Du, Fang F; Xu, Kaiping K; Li, Min M
Publication Date: 2015-02

Variant appearance in text: Nav1.5: F1759A
PubMed Link: 25422141
Variant Present in the following documents:
  • Main text
View BVdb publication page