KCNH2 c.1231_1232delinsTG ;(p.D411C)

Variant ID: 7-150649838-TC-CA

NM_000238.3(KCNH2):c.1231_1232delinsTG;(p.D411C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Coronary Fistulas in a Patient with a Novel Long QT Syndrome Mutation.

Arquivos Brasileiros De Cardiologia
Plácido, Rui R; Cortez-Dias, Nuno N; Veiga, Arminda A; Jorge, Cláudia C; Miltenberger-Miltény, Gábriel G; Pinto, Fausto F
Publication Date: 2015-11

Variant appearance in text: HERG: Asp411Cys
PubMed Link: 26577721
Variant Present in the following documents:
  • Main text
  • abc-105-05-0536.pdf
View BVdb publication page



Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating.

Circulation
Balijepalli, Sadguna Y SY; Lim, Evi E; Concannon, Sarah P SP; Chew, Chen L CL; Holzem, Kassandra E KE; Tester, David J DJ; Ackerman, Michael J MJ; Delisle, Brian P BP; Balijepalli, Ravi C RC; January, Craig T CT
Publication Date: 2012-12-11

Variant appearance in text: Kv11.1: D411C
PubMed Link: 23136156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Negative charges in the transmembrane domains of the HERG K channel are involved in the activation- and deactivation-gating processes.

The Journal Of General Physiology
Liu, Jie J; Zhang, Mei M; Jiang, Min M; Tseng, Gea-Ny GN
Publication Date: 2003-06

Variant appearance in text: HERG: D411C
PubMed Link: 12771194
Variant Present in the following documents:
  • Main text
  • 200308788.pdf
View BVdb publication page