KCNQ1 c.418A>T ;(p.S140C)

Variant ID: 11-2549189-A-T

NM_000218.2(KCNQ1):c.418A>T;(p.S140C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Probing the Dynamics and Structural Topology of the Reconstituted Human KCNQ1 Voltage Sensor Domain (Q1-VSD) in Lipid Bilayers Using Electron Paramagnetic Resonance Spectroscopy.

Biochemistry
Dixit, Gunjan G; Sahu, Indra D ID; Reynolds, Warren D WD; Wadsworth, Tessa M TM; Harding, Benjamin D BD; Jaycox, Colleen K CK; Dabney-Smith, Carole C; Sanders, Charles R CR; Lorigan, Gary A GA
Publication Date: 2019-02-19

Variant appearance in text: KCNQ1: S140C
PubMed Link: 30620191
Variant Present in the following documents:
  • Main text
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: S140C
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: S140C
PubMed Link: 21152909
Variant Present in the following documents:
  • Main text
View BVdb publication page