KCNQ1 c.428C>G ;(p.S143C)

Variant ID: 11-2549199-C-G

NM_000218.2(KCNQ1):c.428C>G;(p.S143C)

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: S143C
PubMed Link: 30620191
Variant Present in the following documents:
  • Main text
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: LQT1: S143C
PubMed Link: 21152909
Variant Present in the following documents:
  • Main text
View BVdb publication page



Location of KCNE1 relative to KCNQ1 in the I(KS) potassium channel by disulfide cross-linking of substituted cysteines.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chung, David Y DY; Chan, Priscilla J PJ; Bankston, John R JR; Yang, Lin L; Liu, Guoxia G; Marx, Steven O SO; Karlin, Arthur A; Kass, Robert S RS
Publication Date: 2009-01-20

Variant appearance in text: KCNQ1: S143C
PubMed Link: 19131515
Variant Present in the following documents:
  • Main text
View BVdb publication page