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KCNQ1 c.1057_1058delinsGA ;(p.L353E)
Variant ID: 11-2606466-CT-GA
NM_000218.2(
KCNQ1
):c.1057_1058delinsGA;(p.L353E)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05
Variant appearance in text: KCNQ1: L353E
PubMed Link:
26745405
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: L353E
PubMed Link:
21059661
Variant Present in the following documents:
Main text
View BVdb publication page
Role of the S6 C-terminus in KCNQ1 channel gating.
The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01
Variant appearance in text: KCNQ1: L353E
PubMed Link:
17932138
Variant Present in the following documents:
Main text
View BVdb publication page