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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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