SCN5A c.2414_2415delinsGT ;(p.S805C)

Variant ID: 3-38628912-CG-AC

NM_000335.4(SCN5A):c.2414_2415delinsGT;(p.S805C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Modulation of the effects of class Ib antiarrhythmics on cardiac NaV1.5-encoded channels by accessory NaVβ subunits.

Jci Insight
Zhu, Wandi W; Wang, Wei W; Angsutararux, Paweorn P; Mellor, Rebecca L RL; Isom, Lori L LL; Nerbonne, Jeanne M JM; Silva, Jonathan R JR
Publication Date: 2021-08-09

Variant appearance in text: SCN5A: S805C
PubMed Link: 34156986
Variant Present in the following documents:
  • Main text
  • jciinsight-6-143092.pdf
View BVdb publication page



Predicting Patient Response to the Antiarrhythmic Mexiletine Based on Genetic Variation.

Circulation Research
Zhu, Wandi W; Mazzanti, Andrea A; Voelker, Taylor L TL; Hou, Panpan P; Moreno, Jonathan D JD; Angsutararux, Paweorn P; Naegle, Kristen M KM; Priori, Silvia G SG; Silva, Jonathan R JR
Publication Date: 2019-02-15

Variant appearance in text: Nav1.5: S805C
PubMed Link: 30566038
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms of noncovalent β subunit regulation of NaV channel gating.

The Journal Of General Physiology
Zhu, Wandi W; Voelker, Taylor L TL; Varga, Zoltan Z; Schubert, Angela R AR; Nerbonne, Jeanne M JM; Silva, Jonathan R JR
Publication Date: 2017-08-07

Variant appearance in text: Nav1.5: S805C
PubMed Link: 28720590
Variant Present in the following documents:
  • JGP_201711802.pdf
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Regulation of Na+ channel inactivation by the DIII and DIV voltage-sensing domains.

The Journal Of General Physiology
Hsu, Eric J EJ; Zhu, Wandi W; Schubert, Angela R AR; Voelker, Taylor T; Varga, Zoltan Z; Silva, Jonathan R JR
Publication Date: 2017-03-06

Variant appearance in text: SCN5A: S805C
PubMed Link: 28232510
Variant Present in the following documents:
  • Main text
  • JGP_201611678.pdf
View BVdb publication page



Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.

Circulation. Arrhythmia And Electrophysiology
Varga, Zoltan Z; Zhu, Wandi W; Schubert, Angela R AR; Pardieck, Jennifer L JL; Krumholz, Arie A; Hsu, Eric J EJ; Zaydman, Mark A MA; Cui, Jianmin J; Silva, Jonathan R JR
Publication Date: 2015-10

Variant appearance in text: SCN5A: S805C
PubMed Link: 26283144
Variant Present in the following documents:
  • Main text
View BVdb publication page