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KCNQ1 c.764T>C ;(p.V255A)
Variant ID: 11-2593323-T-C
NM_000218.2(
KCNQ1
):c.764T>C;(p.V255A)
This variant was identified in 4 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: V255A
PubMed Link:
35768468
Variant Present in the following documents:
Main text
41467_2022_Article_31526.pdf
41467_2022_31526_MOESM1_ESM.pdf
41467_2022_31526_MOESM2_ESM.pdf
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: V255A
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: V255A
PubMed Link:
21059661
Variant Present in the following documents:
Main text
View BVdb publication page