KCNQ1 c.1019T>G ;(p.F340C)

Variant ID: 11-2604762-T-G

NM_000218.2(KCNQ1):c.1019T>G;(p.F340C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

European Heart Journal
Schwartz, Peter J PJ; Moreno, Cristina C; Kotta, Maria-Christina MC; Pedrazzini, Matteo M; Crotti, Lia L; Dagradi, Federica F; Castelletti, Silvia S; Haugaa, Kristina H KH; Denjoy, Isabelle I; Shkolnikova, Maria A MA; Brink, Paul A PA; Heradien, Marshall J MJ; Seyen, Sandrine R M SRM; SpƤtjens, Roel L H M G RLHMG; Spazzolini, Carla C; Volders, Paul G A PGA
Publication Date: 2021-12-07

Variant appearance in text: KCNQ1: F340C
PubMed Link: 34505893
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant.

Anesthesiology
Mikuni, Ikuomi I; Torres, Carlos G CG; Bakshi, Tania T; Tampo, Akihito A; Carlson, Brian E BE; Bienengraeber, Martin W MW; Kwok, Wai-Meng WM
Publication Date: 2015-04

Variant appearance in text: KCNQ1: F340C
PubMed Link: 25585005
Variant Present in the following documents:
  • Main text
View BVdb publication page



Building KCNQ1/KCNE1 channel models and probing their interactions by molecular-dynamics simulations.

Biophysical Journal
Xu, Yu Y; Wang, Yuhong Y; Meng, Xuan-Yu XY; Zhang, Mei M; Jiang, Min M; Cui, Meng M; Tseng, Gea-Ny GN
Publication Date: 2013-12-03

Variant appearance in text: KCNQ1: F340C
PubMed Link: 24314077
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits.

The Journal Of General Physiology
Vanoye, Carlos G CG; Welch, Richard C RC; Daniels, Melissa A MA; Manderfield, Lauren J LJ; Tapper, Andrew R AR; Sanders, Charles R CR; George, Alfred L AL
Publication Date: 2009-09

Variant appearance in text: KCNQ1: F340C
PubMed Link: 19687231
Variant Present in the following documents:
  • Main text
  • JGP_200910234.pdf
View BVdb publication page