SCN5A c.1717C>G ;(p.Q573E)

Variant ID: 3-38645376-G-C

NM_000335.4(SCN5A):c.1717C>G;(p.Q573E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: LQT3: Q573E
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Toward a hierarchy of mechanisms in CaMKII-mediated arrhythmia.

Frontiers In Pharmacology
Vincent, Kevin P KP; McCulloch, Andrew D AD; Edwards, Andrew G AG
Publication Date: 2014

Variant appearance in text: LQT3: Q573E
PubMed Link: 24994983
Variant Present in the following documents:
  • Main text
  • fphar-05-00110.pdf
View BVdb publication page



CaMKII-dependent regulation of cardiac Na(+) homeostasis.

Frontiers In Pharmacology
Grandi, Eleonora E; Herren, Anthony W AW
Publication Date: 2014

Variant appearance in text: SCN5A: Q573E
PubMed Link: 24653702
Variant Present in the following documents:
  • Main text
  • fphar-05-00041.pdf
View BVdb publication page



Post-translational modifications of the cardiac Na channel: contribution of CaMKII-dependent phosphorylation to acquired arrhythmias.

American Journal Of Physiology. Heart And Circulatory Physiology
Herren, Anthony W AW; Bers, Donald M DM; Grandi, Eleonora E
Publication Date: 2013-08-15

Variant appearance in text: SCN5A: Q573E
PubMed Link: 23771687
Variant Present in the following documents:
  • Main text
View BVdb publication page



Na(+) channel I-II loop mediates parallel genetic and phosphorylation-dependent gating changes.

Circulation
Bers, Donald M DM; Herren, Anthony W AW
Publication Date: 2012-10-23

Variant appearance in text: LQT3: Q573E
PubMed Link: 23091083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease.

Circulation
Koval, Olha M OM; Snyder, Jedidiah S JS; Wolf, Roseanne M RM; Pavlovicz, Ryan E RE; Glynn, Patric P; Curran, Jerry J; Leymaster, Nicholas D ND; Dun, Wen W; Wright, Patrick J PJ; Cardona, Natalia N; Qian, Lan L; Mitchell, Colleen C CC; Boyden, Penelope A PA; Binkley, Philip F PF; Li, Chenglong C; Anderson, Mark E ME; Mohler, Peter J PJ; Hund, Thomas J TJ
Publication Date: 2012-10-23

Variant appearance in text: SCN5A: Q573E
PubMed Link: 23008441
Variant Present in the following documents:
  • Main text
View BVdb publication page