SCN5A c.2543T>C ;(p.I848T)

Variant ID: 3-38627426-A-G

NM_000335.4(SCN5A):c.2543T>C;(p.I848T)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity.

The Journal Of Biological Chemistry
Kerth, Clara M CM; Hautvast, Petra P; Körner, Jannis J; Lampert, Angelika A; Meents, Jannis E JE
Publication Date: 2021

Variant appearance in text: Nav1.5: I848T
PubMed Link: 33361158
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.

Pflugers Archiv : European Journal Of Physiology
Baker, Mark D MD; Nassar, Mohammed A MA
Publication Date: 2020-07

Variant appearance in text: Nav1.5: I848T
PubMed Link: 32601768
Variant Present in the following documents:
  • 424_2020_Article_2419.pdf
View BVdb publication page



SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing.

Plos One
Kist, Andreas M AM; Sagafos, Dagrun D; Rush, Anthony M AM; Neacsu, Cristian C; Eberhardt, Esther E; Schmidt, Roland R; Lunden, Lars Kristian LK; Ørstavik, Kristin K; Kaluza, Luisa L; Meents, Jannis J; Zhang, Zhiping Z; Carr, Thomas Hedley TH; Salter, Hugh H; Malinowsky, David D; Wollberg, Patrik P; Krupp, Johannes J; Kleggetveit, Inge Petter IP; Schmelz, Martin M; Jørum, Ellen E; Lampert, Angelika A; Namer, Barbara B
Publication Date: 2016

Variant appearance in text: Nav1.5: I848T
PubMed Link: 27598514
Variant Present in the following documents:
  • Main text
  • pone.0161789.pdf
View BVdb publication page



Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

The Journal Of Physiology
Theile, Jonathan W JW; Jarecki, Brian W BW; Piekarz, Andrew D AD; Cummins, Theodore R TR
Publication Date: 2011-02-01

Variant appearance in text: Nav1.5: I848T
PubMed Link: 21115638
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pain as a channelopathy.

The Journal Of Clinical Investigation
Raouf, Ramin R; Quick, Kathryn K; Wood, John N JN
Publication Date: 2010-11

Variant appearance in text: SCN5A: I848T
PubMed Link: 21041956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Excitability constraints on voltage-gated sodium channels.

Plos Computational Biology
Angelino, Elaine E; Brenner, Michael P MP
Publication Date: 2007-09

Variant appearance in text: Nav1.5: I848T
PubMed Link: 17892320
Variant Present in the following documents:
  • pcbi.0030177.sd001.pdf
View BVdb publication page



Sodium channel mutations in epilepsy and other neurological disorders.

The Journal Of Clinical Investigation
Meisler, Miriam H MH; Kearney, Jennifer A JA
Publication Date: 2005-08

Variant appearance in text: SCN5A: I848T
PubMed Link: 16075041
Variant Present in the following documents:
  • Main text
View BVdb publication page