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KCNQ1 c.772_773delinsGC ;(p.H258A)
Variant ID: 11-2593331-CA-GC
NM_000218.2(
KCNQ1
):c.772_773delinsGC;(p.H258A)
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:
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: H258A
PubMed Link:
32581825
Variant Present in the following documents:
Main text
fphys-11-00504.pdf
View BVdb publication page
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05
Variant appearance in text: KCNQ1: H258A
PubMed Link:
26745405
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: H258A
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: H258A
PubMed Link:
21059661
Variant Present in the following documents:
Main text
View BVdb publication page