KCNQ1 c.421_423delinsTGT ;(p.V141C)

Variant ID: 11-2549192-GTG-TGT

NM_000218.2(KCNQ1):c.421_423delinsTGT;(p.V141C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.

Communications Biology
Wu, Xiaoan X; Perez, Marta E ME; Noskov, Sergei Yu SY; Larsson, H Peter HP
Publication Date: 2021-07-20

Variant appearance in text: KCNQ1: V141C
PubMed Link: 34285340
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2418.pdf
View BVdb publication page



Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.

Elife
Kuenze, Georg G; Vanoye, Carlos G CG; Desai, Reshma R RR; Adusumilli, Sneha S; Brewer, Kathryn R KR; Woods, Hope H; McDonald, Eli F EF; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2020-10-23

Variant appearance in text: KCNQ1: V141C
PubMed Link: 33095155
Variant Present in the following documents:
  • Main text
  • elife-57680.pdf
View BVdb publication page



Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1.

The Journal Of General Physiology
Chan, Priscilla J PJ; Osteen, Jeremiah D JD; Xiong, Dazhi D; Bohnen, Michael S MS; Doshi, Darshan D; Sampson, Kevin J KJ; Marx, Steven O SO; Karlin, Arthur A; Kass, Robert S RS
Publication Date: 2012-02

Variant appearance in text: KCNQ1: V141C
PubMed Link: 22250012
Variant Present in the following documents:
  • Main text
  • JGP_201110672.pdf
View BVdb publication page



Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.

The Journal Of Membrane Biology
Wang, Yu Hong YH; Jiang, Min M; Xu, Xu Lin XL; Hsu, Kai-Ling KL; Zhang, Mei M; Tseng, Gea-Ny GN
Publication Date: 2011-02

Variant appearance in text: KCNQ1: V141C
PubMed Link: 21152909
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.

The Journal Of Physiology
Restier, Lioara L; Cheng, Lan L; Sanguinetti, Michael C MC
Publication Date: 2008-09-01

Variant appearance in text: KCNQ1: V141C
PubMed Link: 18599533
Variant Present in the following documents:
  • Main text
View BVdb publication page