KCNQ1 c.751_752delinsGC ;(p.L251A)

Variant ID: 11-2593310-CT-GC

NM_000218.2(KCNQ1):c.751_752delinsGC;(p.L251A)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: L251A
PubMed Link: 35768468
Variant Present in the following documents:
  • Main text
  • 41467_2022_31526_MOESM2_ESM.pdf
  • 41467_2022_31526_MOESM1_ESM.pdf
  • 41467_2022_Article_31526.pdf
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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: L251A
PubMed Link: 32581825
Variant Present in the following documents:
  • Main text
  • fphys-11-00504.pdf
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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: L251A
PubMed Link: 32015334
Variant Present in the following documents:
  • Main text
  • 41467_2020_14406_MOESM1_ESM.pdf
  • 41467_2020_Article_14406.pdf
  • 41467_2020_14406_MOESM2_ESM.pdf
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Fatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.

Elife
Liin, Sara I SI; Larsson, Johan E JE; Barro-Soria, Rene R; Bentzen, Bo Hjorth BH; Larsson, H Peter HP
Publication Date: 2016-09-30

Variant appearance in text: KCNQ1: L251A
PubMed Link: 27690226
Variant Present in the following documents:
  • Main text
  • elife-20272.pdf
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An allosteric mechanism for drug block of the human cardiac potassium channel KCNQ1.

Molecular Pharmacology
Yang, Tao T; Smith, Jarrod A JA; Leake, Brenda F BF; Sanders, Charles R CR; Meiler, Jens J; Roden, Dan M DM
Publication Date: 2013-02

Variant appearance in text: KCNQ1: L251A
PubMed Link: 23193163
Variant Present in the following documents:
  • Main text
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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: L251A
PubMed Link: 22509038
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: L251A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page



The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure.

The Journal Of Biological Chemistry
Labro, Alain J AJ; Boulet, Inge R IR; Choveau, Frank S FS; Mayeur, Evy E; Bruyns, Tine T; Loussouarn, Gildas G; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2011-01-07

Variant appearance in text: KCNQ1: L251A
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
View BVdb publication page