KCNQ1 c.79_80delinsGA ;(p.S27D)

Variant ID: 11-2466407-AG-GA

NM_000218.2(KCNQ1):c.79_80delinsGA;(p.S27D)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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: S27D
PubMed Link: 32581825
Variant Present in the following documents:
  • Main text
  • fphys-11-00504.pdf
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Regulation of IKs Potassium Current by Isoproterenol in Adult Cardiomyocytes Requires Type 9 Adenylyl Cyclase.

Cells
Li, Yong Y; Hof, Thomas T; Baldwin, Tanya A TA; Chen, Lei L; Kass, Robert S RS; Dessauer, Carmen W CW
Publication Date: 2019-08-27

Variant appearance in text: KCNQ1: S27D
PubMed Link: 31461851
Variant Present in the following documents:
  • cells-08-00981.pdf
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Single channel kinetic analysis of the cAMP effect on IKs mutants, S209F and S27D/S92D.

Channels (Austin, Tex.)
Thompson, Emely E; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2018

Variant appearance in text: KCNQ1: S27D
PubMed Link: 30027808
Variant Present in the following documents:
  • Main text
  • kchl-12-01-1499369.pdf
View BVdb publication page



cAMP-dependent regulation of I single-channel kinetics.

The Journal Of General Physiology
Thompson, Emely E; Eldstrom, Jodene J; Westhoff, Maartje M; McAfee, Donald D; Balse, Elise E; Fedida, David D
Publication Date: 2017-08-07

Variant appearance in text: KCNQ1: S27D
PubMed Link: 28687606
Variant Present in the following documents:
  • Main text
  • JGP_201611734.pdf
  • JGP_201611734_sm.pdf
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Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia
Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M
Publication Date: 2016-10

Variant appearance in text: KCNQ1: S27D
PubMed Link: 27761162
Variant Present in the following documents:
  • Main text
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A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

Heart Rhythm
Bartos, Daniel C DC; Giudicessi, John R JR; Tester, David J DJ; Ackerman, Michael J MJ; Ohno, Seiko S; Horie, Minoru M; Gollob, Michael H MH; Burgess, Don E DE; Delisle, Brian P BP
Publication Date: 2014-03

Variant appearance in text: Kv7.1: S27D
PubMed Link: 24269949
Variant Present in the following documents:
  • Main text
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Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks).

Proceedings Of The National Academy Of Sciences Of The United States Of America
Li, Yang Y; Gao, Junyuan J; Lu, Zhongju Z; McFarland, Kelli K; Shi, Jingyi J; Bock, Kevin K; Cohen, Ira S IS; Cui, Jianmin J
Publication Date: 2013-11-19

Variant appearance in text: KCNQ1: S27D
PubMed Link: 24190995
Variant Present in the following documents:
  • Main text
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Sudden death by stress: how far under the nerves should we dig to find out why LQT1 patients die?

Journal Of The American College Of Cardiology
Schwartz, Peter J PJ; Volders, Paul G A PG
Publication Date: 2014-03-04

Variant appearance in text: KCNQ1: S27D
PubMed Link: 24184246
Variant Present in the following documents:
  • Main text
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KCNE1 enhances phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity of IKs to modulate channel activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Li, Yang Y; Zaydman, Mark A MA; Wu, Dick D; Shi, Jingyi J; Guan, Michael M; Virgin-Downey, Brett B; Cui, Jianmin J
Publication Date: 2011-05-31

Variant appearance in text: KCNQ1: S27D
PubMed Link: 21576493
Variant Present in the following documents:
  • Main text
View BVdb publication page



IKs response to protein kinase A-dependent KCNQ1 phosphorylation requires direct interaction with microtubules.

Cardiovascular Research
Nicolas, Céline S CS; Park, Kyu-Ho KH; El Harchi, Aziza A; Camonis, Jacques J; Kass, Robert S RS; Escande, Denis D; Mérot, Jean J; Loussouarn, Gildas G; Le Bouffant, Françoise F; Baró, Isabelle I
Publication Date: 2008-08-01

Variant appearance in text: KCNQ1: S27D
PubMed Link: 18390900
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulatory actions of the A-kinase anchoring protein Yotiao on a heart potassium channel downstream of PKA phosphorylation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kurokawa, Junko J; Motoike, Howard K HK; Rao, Jenny J; Kass, Robert S RS
Publication Date: 2004-11-16

Variant appearance in text: KCNQ1: S27D
PubMed Link: 15528278
Variant Present in the following documents:
  • Main text
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Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kurokawa, Junko J; Chen, Lei L; Kass, Robert S RS
Publication Date: 2003-02-18

Variant appearance in text: KCNQ1: S27D
PubMed Link: 12566567
Variant Present in the following documents:
  • Main text
View BVdb publication page