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KCNQ1 c.748_749delinsGC ;(p.L250A)
Variant ID: 11-2593307-CT-GC
NM_000218.2(
KCNQ1
):c.748_749delinsGC;(p.L250A)
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:
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: L250A
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: L250A
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: L250A
PubMed Link:
21059661
Variant Present in the following documents:
Main text
View BVdb publication page