KCNQ1 c.478_479delinsAG ;(p.E160R)

Variant ID: 11-2591858-GA-AG

NM_000218.2(KCNQ1):c.478_479delinsAG;(p.E160R)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Modulating the voltage sensor of a cardiac potassium channel shows antiarrhythmic effects.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lin, Yangyang Y; Grinter, Sam Z SZ; Lu, Zhongju Z; Xu, Xianjin X; Wang, Hong Zhan HZ; Liang, Hongwu H; Hou, Panpan P; Gao, Junyuan J; Clausen, Chris C; Shi, Jingyi J; Zhao, Wenshan W; Ma, Zhiwei Z; Liu, Yongfeng Y; White, Kelli McFarland KM; Zhao, Lu L; Kang, Po Wei PW; Zhang, Guohui G; Cohen, Ira S IS; Zou, Xiaoqin X; Cui, Jianmin J
Publication Date: 2021-05-18

Variant appearance in text: KCNQ1: E160R
PubMed Link: 33990467
Variant Present in the following documents:
  • Main text
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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: E160R
PubMed Link: 33322401
Variant Present in the following documents:
  • Main text
  • ijms-21-09440.pdf
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Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Frontiers In Physiology
Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2020

Variant appearance in text: KCNQ1: E160R
PubMed Link: 32581825
Variant Present in the following documents:
  • Main text
  • fphys-11-00504.pdf
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Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Nature Communications
Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2020-02-03

Variant appearance in text: KCNQ1: E160R
PubMed Link: 32015334
Variant Present in the following documents:
  • Main text
  • 41467_2020_14406_MOESM1_ESM.pdf
  • 41467_2020_Article_14406.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: E160R
PubMed Link: 31825788
Variant Present in the following documents:
  • Main text
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ML277 specifically enhances the fully activated open state of KCNQ1 by modulating VSD-pore coupling.

Elife
Hou, Panpan P; Shi, Jingyi J; White, Kelli McFarland KM; Gao, Yuan Y; Cui, Jianmin J
Publication Date: 2019-07-22

Variant appearance in text: KCNQ1: E160R
PubMed Link: 31329101
Variant Present in the following documents:
  • Main text
  • elife-48576.pdf
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I ion-channel pore conductance can result from individual voltage sensor movements.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Westhoff, Maartje M; Eldstrom, Jodene J; Murray, Christopher I CI; Thompson, Emely E; Fedida, David D
Publication Date: 2019-04-16

Variant appearance in text: KCNQ1: E160R
PubMed Link: 30918124
Variant Present in the following documents:
  • Main text
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Single channel kinetic analysis of the cAMP effect on IKs mutants, S209F and S27D/S92D.

Channels (Austin, Tex.)
Thompson, Emely E; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2018

Variant appearance in text: KCNQ1: E160R
PubMed Link: 30027808
Variant Present in the following documents:
  • Main text
  • kchl-12-01-1499369.pdf
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Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening.

Nature Communications
Hou, Panpan P; Eldstrom, Jodene J; Shi, Jingyi J; Zhong, Ling L; McFarland, Kelli K; Gao, Yuan Y; Fedida, David D; Cui, Jianmin J
Publication Date: 2017-11-23

Variant appearance in text: KCNQ1: E160R
PubMed Link: 29167462
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_1911.pdf
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Photo-Cross-Linking of IKs Demonstrates State-Dependent Interactions between KCNE1 and KCNQ1.

Biophysical Journal
Westhoff, Maartje M; Murray, Christopher I CI; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2017-07-25

Variant appearance in text: KCNQ1: E160R
PubMed Link: 28746852
Variant Present in the following documents:
  • Main text
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cAMP-dependent regulation of I single-channel kinetics.

The Journal Of General Physiology
Thompson, Emely E; Eldstrom, Jodene J; Westhoff, Maartje M; McAfee, Donald D; Balse, Elise E; Fedida, David D
Publication Date: 2017-08-07

Variant appearance in text: KCNQ1: E160R
PubMed Link: 28687606
Variant Present in the following documents:
  • Main text
  • JGP_201611734.pdf
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Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: E160R
PubMed Link: 26745405
Variant Present in the following documents:
  • Main text
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Domain-domain interactions determine the gating, permeation, pharmacology, and subunit modulation of the IKs ion channel.

Elife
Zaydman, Mark A MA; Kasimova, Marina A MA; McFarland, Kelli K; Beller, Zachary Z; Hou, Panpan P; Kinser, Holly E HE; Liang, Hongwu H; Zhang, Guohui G; Shi, Jingyi J; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2014-12-23

Variant appearance in text: KCNQ1: E160R
PubMed Link: 25535795
Variant Present in the following documents:
  • Main text
  • elife03606.pdf
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Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.

The Journal Of Physiology
Restier, Lioara L; Cheng, Lan L; Sanguinetti, Michael C MC
Publication Date: 2008-09-01

Variant appearance in text: KCNQ1: E160R
PubMed Link: 18599533
Variant Present in the following documents:
  • Main text
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