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KCNQ1 c.1018_1019delinsGC ;(p.F340A)
Variant ID: 11-2604761-TT-GC
NM_000218.2(
KCNQ1
):c.1018_1019delinsGC;(p.F340A)
This variant was identified in 8 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: F340A
PubMed Link:
35957984
Variant Present in the following documents:
Main text
fphys-13-903050.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: Kv7.1: F340A
PubMed Link:
32015334
Variant Present in the following documents:
41467_2020_Article_14406.pdf
View BVdb publication page
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Plos One
Jalily Hasani, Horia H; Ganesan, Aravindhan A; Ahmed, Marawan M; Barakat, Khaled H KH
Publication Date: 2018
Variant appearance in text: KCNQ1: Phe340Ala
PubMed Link:
29444113
Variant Present in the following documents:
Main text
pone.0191905.pdf
View BVdb publication page
KCNE1 and KCNE3 modulate KCNQ1 channels by affecting different gating transitions.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Barro-Soria, Rene R; Ramentol, Rosamary R; Liin, Sara I SI; Perez, Marta E ME; Kass, Robert S RS; Larsson, H Peter HP
Publication Date: 2017-08-29
Variant appearance in text: KCNQ1: F340A
PubMed Link:
28808020
Variant Present in the following documents:
Main text
View BVdb publication page
Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant.
Anesthesiology
Mikuni, Ikuomi I; Torres, Carlos G CG; Bakshi, Tania T; Tampo, Akihito A; Carlson, Brian E BE; Bienengraeber, Martin W MW; Kwok, Wai-Meng WM
Publication Date: 2015-04
Variant appearance in text: KCNQ1: F340A
PubMed Link:
25585005
Variant Present in the following documents:
Main text
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: F340A
PubMed Link:
23193163
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: F340A
PubMed Link:
21320432
Variant Present in the following documents:
Main text
View BVdb publication page