KCNQ1 c.433_434delinsTG ;(p.I145C)

Variant ID: 11-2549204-AT-TG

NM_000218.2(KCNQ1):c.433_434delinsTG;(p.I145C)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.

International Journal Of Molecular Sciences
Wu, Xiaoan X; Larsson, H Peter HP
Publication Date: 2020-12-11

Variant appearance in text: KCNQ1: I145C
PubMed Link: 33322401
Variant Present in the following documents:
  • Main text
  • ijms-21-09440.pdf
View BVdb publication page



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: I145C
PubMed Link: 30620191
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.

The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08

Variant appearance in text: KCNQ1: I145C
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • JGP_201311122.pdf
View BVdb publication page



Probing the structural basis for differential KCNQ1 modulation by KCNE1 and KCNE2.

The Journal Of General Physiology
Wang, Yuhong Y; Zhang, Mei M; Xu, Yu Y; Jiang, Min M; Zankov, Dimitar P DP; Cui, Meng M; Tseng, Gea-Ny GN
Publication Date: 2012-12

Variant appearance in text: KCNQ1: I145C
PubMed Link: 23183700
Variant Present in the following documents:
  • Main text
  • JGP_201210847.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: I145C
PubMed Link: 22250012
Variant Present in the following documents:
  • Main text
  • JGP_201110672.pdf
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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: I145C
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: I145C
PubMed Link: 19131515
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNQ1 and KCNE1 in the IKs channel complex make state-dependent contacts in their extracellular domains.

The Journal Of General Physiology
Xu, Xulin X; Jiang, Min M; Hsu, Kai-Ling KL; Zhang, Mei M; Tseng, Gea-Ny GN
Publication Date: 2008-06

Variant appearance in text: KCNQ1: I145C
PubMed Link: 18504315
Variant Present in the following documents:
  • Main text
  • jgp1310589.pdf
View BVdb publication page