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KCNQ1 c.728_729delinsAA ;(p.R243Q)
Variant ID: 11-2593287-GC-AA
NM_000218.2(
KCNQ1
):c.728_729delinsAA;(p.R243Q)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Two small-molecule activators share similar effector sites in the KCNQ1 channel pore but have distinct effects on voltage sensor movements.
Frontiers In Physiology
Chen, Lei L; Peng, Gary G; Comollo, Thomas W TW; Zou, Xinle X; Sampson, Kevin J KJ; Larsson, H Peter HP; Kass, Robert S RS
Publication Date: 2022
Variant appearance in text: KCNQ1: R243Q
PubMed Link:
35957984
Variant Present in the following documents:
Main text
fphys-13-903050.pdf
View BVdb publication page
Probing binding sites and mechanisms of action of an I(Ks) activator by computations and experiments.
Biophysical Journal
Xu, Yu Y; Wang, Yuhong Y; Zhang, Mei M; Jiang, Min M; Rosenhouse-Dantsker, Avia A; Wassenaar, Tsjerk T; Tseng, Gea-Ny GN
Publication Date: 2015-01-06
Variant appearance in text: KCNQ1: R243Q
PubMed Link:
25564853
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: R243Q
PubMed Link:
25535795
Variant Present in the following documents:
Main text
elife03606.pdf
View BVdb publication page
Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06
Variant appearance in text: Kv7.1: R243Q
PubMed Link:
23861489
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: R243Q
PubMed Link:
22509038
Variant Present in the following documents:
Main text
View BVdb publication page