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KCNQ1 c.1016_1017delinsGG ;(p.F339W)
Variant ID: 11-2604759-TC-GG
NM_000218.2(
KCNQ1
):c.1016_1017delinsGG;(p.F339W)
This variant was identified in 3 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: F339W
PubMed Link:
35957984
Variant Present in the following documents:
Main text
fphys-13-903050.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: F339W
PubMed Link:
29167462
Variant Present in the following documents:
41467_2017_1911_MOESM2_ESM.pdf
View BVdb publication page
Interaction of KCNE subunits with the KCNQ1 K+ channel pore.
The Journal Of Physiology
Panaghie, Gianina G; Tai, Kwok-Keung KK; Abbott, Geoffrey W GW
Publication Date: 2006-02-01
Variant appearance in text: KCNQ1: F339W
PubMed Link:
16308347
Variant Present in the following documents:
Main text
View BVdb publication page