KCNQ1 c.676_677delinsTG ;(p.A226C)

Variant ID: 11-2592626-GC-TG

NM_000218.2(KCNQ1):c.676_677delinsTG;(p.A226C)

This variant was identified in 10 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: A226C
PubMed Link: 34285340
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2418.pdf
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The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.

Biochimica Et Biophysica Acta. Biomembranes
Dixit, Gunjan G; Dabney-Smith, Carole C; Lorigan, Gary A GA
Publication Date: 2020-05-01

Variant appearance in text: KCNQ1: A226C
PubMed Link: 31825788
Variant Present in the following documents:
  • Main text
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KCNE3 acts by promoting voltage sensor activation in KCNQ1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Barro-Soria, Rene R; Perez, Marta E ME; Larsson, H Peter HP
Publication Date: 2015-12-29

Variant appearance in text: KCNQ1: A226C
PubMed Link: 26668384
Variant Present in the following documents:
  • Main text
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KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.

Gene
Abbott, Geoffrey W GW
Publication Date: 2016-01-15

Variant appearance in text: KCNQ1: A226C
PubMed Link: 26410412
Variant Present in the following documents:
  • Main text
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KCNQ1 channel modulation by KCNE proteins via the voltage-sensing domain.

The Journal Of Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2015-06-15

Variant appearance in text: KCNQ1: A226C
PubMed Link: 25603957
Variant Present in the following documents:
  • Main text
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KCNE1 remodels the voltage sensor of Kv7.1 to modulate channel function.

Biophysical Journal
Wu, Dick D; Pan, Hua H; Delaloye, Kelli K; Cui, Jianmin J
Publication Date: 2010-12-01

Variant appearance in text: Kv7.1: A226C
PubMed Link: 21112284
Variant Present in the following documents:
  • Main text
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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: A226C
PubMed Link: 19131515
Variant Present in the following documents:
  • Main text
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S1 constrains S4 in the voltage sensor domain of Kv7.1 K+ channels.

Plos One
Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Shamgar, Liora L; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09

Variant appearance in text: Kv7.1: A226C
PubMed Link: 18398461
Variant Present in the following documents:
  • Main text
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KCNE peptides differently affect voltage sensor equilibrium and equilibration rates in KCNQ1 K+ channels.

The Journal Of General Physiology
Rocheleau, Jessica M JM; Kobertz, William R WR
Publication Date: 2008-01

Variant appearance in text: KCNQ1: A226C
PubMed Link: 18079560
Variant Present in the following documents:
  • Main text
  • jgp1310059.pdf
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KCNE1 and KCNE3 stabilize and/or slow voltage sensing S4 segment of KCNQ1 channel.

The Journal Of General Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2007-09

Variant appearance in text: KCNQ1: A226C
PubMed Link: 17698596
Variant Present in the following documents:
  • Main text
View BVdb publication page