KCNQ1 c.682_683delinsCA ;(p.R228Q)

Variant ID: 11-2592632-AG-CA

NM_000218.2(KCNQ1):c.682_683delinsCA;(p.R228Q)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening.

The Journal Of General Physiology
Barro-Soria, Rene R
Publication Date: 2019-02-04

Variant appearance in text: KCNQ1: R228Q
PubMed Link: 30578330
Variant Present in the following documents:
  • Main text
  • JGP_201812221.pdf
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In-Depth Study of the Interaction, Sensitivity, and Gating Modulation by PUFAs on K+ Channels; Interaction and New Targets.

Frontiers In Physiology
Moreno, Cristina C; de la Cruz, Alicia A; Valenzuela, Carmen C
Publication Date: 2016

Variant appearance in text: Kv7.1: R228Q
PubMed Link: 27933000
Variant Present in the following documents:
  • Main text
  • fphys-07-00578.pdf
View BVdb publication page



Regulation of KCNQ/Kv7 family voltage-gated K+ channels by lipids.

Biochimica Et Biophysica Acta. Biomembranes
Taylor, Keenan C KC; Sanders, Charles R CR
Publication Date: 2017-04

Variant appearance in text: Kv7.1: R228Q
PubMed Link: 27818172
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R228Q
PubMed Link: 26668384
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polyunsaturated fatty acid analogs act antiarrhythmically on the cardiac IKs channel.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Liin, Sara I SI; Silverå Ejneby, Malin M; Barro-Soria, Rene R; Skarsfeldt, Mark Alexander MA; Larsson, Johan E JE; Starck Härlin, Frida F; Parkkari, Teija T; Bentzen, Bo Hjorth BH; Schmitt, Nicole N; Larsson, H Peter HP; Elinder, Fredrik F
Publication Date: 2015-05-05

Variant appearance in text: Kv7.1: R228Q
PubMed Link: 25901329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allosteric gating mechanism underlies the flexible gating of KCNQ1 potassium channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Osteen, Jeremiah D JD; Barro-Soria, Rene R; Robey, Seth S; Sampson, Kevin J KJ; Kass, Robert S RS; Larsson, H Peter HP
Publication Date: 2012-05-01

Variant appearance in text: KCNQ1: R228Q
PubMed Link: 22509038
Variant Present in the following documents:
  • Main text
View BVdb publication page