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.




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
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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
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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