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KCNQ1 c.814G>T ;(p.G272C)
Variant ID: 11-2594109-G-T
NM_000218.2(
KCNQ1
):c.814G>T;(p.G272C)
This variant was identified in 4 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: G272C
PubMed Link:
35957984
Variant Present in the following documents:
Main text
fphys-13-903050.pdf
View BVdb publication page
Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277.
Nature Communications
Willegems, Katrien K; Eldstrom, Jodene J; Kyriakis, Efthimios E; Ataei, Fariba F; Sahakyan, Harutyun H; Dou, Ying Y; Russo, Sophia S; Van Petegem, Filip F; Fedida, David D
Publication Date: 2022-06-29
Variant appearance in text: KCNQ1: G272C
PubMed Link:
35768468
Variant Present in the following documents:
Main text
41467_2022_31526_MOESM1_ESM.pdf
41467_2022_31526_MOESM2_ESM.pdf
41467_2022_Article_31526.pdf
View BVdb publication page
ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.
The Journal Of General Physiology
Eldstrom, Jodene J; McAfee, Donald A DA; Dou, Ying Y; Wang, Yundi Y; Fedida, David D
Publication Date: 2021-12-06
Variant appearance in text: KCNQ1: G272C
PubMed Link:
34636894
Variant Present in the following documents:
Main text
View BVdb publication page
Tight coupling of rubidium conductance and inactivation in human KCNQ1 potassium channels.
The Journal Of Physiology
Seebohm, Guiscard G; Sanguinetti, Michael C MC; Pusch, Michael M
Publication Date: 2003-10-15
Variant appearance in text: KCNQ1: G272C
PubMed Link:
14561821
Variant Present in the following documents:
Main text
View BVdb publication page