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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page