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KCNQ1 c.955_957delinsTAT ;(p.V319Y)
Variant ID: 11-2604698-GTG-TAT
NM_000218.2(
KCNQ1
):c.955_957delinsTAT;(p.V319Y)
This variant was identified in 5 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: V319Y
PubMed Link:
35957984
Variant Present in the following documents:
Main text
fphys-13-903050.pdf
View BVdb publication page
I ion-channel pore conductance can result from individual voltage sensor movements.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Westhoff, Maartje M; Eldstrom, Jodene J; Murray, Christopher I CI; Thompson, Emely E; Fedida, David D
Publication Date: 2019-04-16
Variant appearance in text: KCNQ1: V319Y
PubMed Link:
30918124
Variant Present in the following documents:
Main text
View BVdb publication page
Individual IKs channels at the surface of mammalian cells contain two KCNE1 accessory subunits.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Plant, Leigh D LD; Xiong, Dazhi D; Dai, Hui H; Goldstein, Steve A N SA
Publication Date: 2014-04-08
Variant appearance in text: KCNQ1: V319Y
PubMed Link:
24591645
Variant Present in the following documents:
Main text
View BVdb publication page
Pore- and state-dependent cadmium block of I(Ks) channels formed with MinK-55C and wild-type KCNQ1 subunits.
Biophysical Journal
Chen, Haijun H; Sesti, Federico F; Goldstein, Steve A N SA
Publication Date: 2003-06
Variant appearance in text: KCNQ1: V319Y
PubMed Link:
12770875
Variant Present in the following documents:
Main text
View BVdb publication page
TEA(+)-sensitive KCNQ1 constructs reveal pore-independent access to KCNE1 in assembled I(Ks) channels.
The Journal Of General Physiology
Kurokawa, J J; Motoike, H K HK; Kass, R S RS
Publication Date: 2001-01
Variant appearance in text: KCNQ1: V319Y
PubMed Link:
11134230
Variant Present in the following documents:
Main text
View BVdb publication page