KCNQ1 c.424_426delinsTGT ;(p.L142C)

Variant ID: 11-2549195-CTG-TGT

NM_000218.2(KCNQ1):c.424_426delinsTGT;(p.L142C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structural basis for KCNE3 modulation of potassium recycling in epithelia.

Science Advances
Kroncke, Brett M BM; Van Horn, Wade D WD; Smith, Jarrod J; Kang, CongBao C; Welch, Richard C RC; Song, Yuanli Y; Nannemann, David P DP; Taylor, Keenan C KC; Sisco, Nicholas J NJ; George, Alfred L AL; Meiler, Jens J; Vanoye, Carlos G CG; Sanders, Charles R CR
Publication Date: 2016-09

Variant appearance in text: KCNQ1: Leu142Cys
PubMed Link: 27626070
Variant Present in the following documents:
  • Main text
  • 1501228.pdf
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: L142C
PubMed Link: 24314077
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: KCNQ1: L142C
PubMed Link: 21152909
Variant Present in the following documents:
  • Main text
View BVdb publication page