SCN5A c.595_596delinsGC ;(p.S199A)

Variant ID: 3-38662349-CT-GC

NM_000335.4(SCN5A):c.595_596delinsGC;(p.S199A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: SCN5A: S199A
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
View BVdb publication page



Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.

Frontiers In Pharmacology
Groome, James R JR; Bayless-Edwards, Landon L
Publication Date: 2020

Variant appearance in text: SCN5A: S199A
PubMed Link: 32180723
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impaired β-arrestin recruitment and reduced desensitization by non-catechol agonists of the D1 dopamine receptor.

Nature Communications
Gray, David L DL; Allen, John A JA; Mente, Scot S; O'Connor, Rebecca E RE; DeMarco, George J GJ; Efremov, Ivan I; Tierney, Patrick P; Volfson, Dmitri D; Davoren, Jennifer J; Guilmette, Edward E; Salafia, Michelle M; Kozak, Rouba R; Ehlers, Michael D MD
Publication Date: 2018-02-14

Variant appearance in text: Nav1.5: S199A
PubMed Link: 29445200
Variant Present in the following documents:
  • 41467_2017_2776_MOESM1_ESM.pdf
View BVdb publication page