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KCNQ1 c.769_770delinsGC ;(p.I257A)
Variant ID: 11-2593328-AT-GC
NM_000218.2(
KCNQ1
):c.769_770delinsGC;(p.I257A)
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:
The residue I257 at S4-S5 linker in KCNQ1 determines KCNQ1/KCNE1 channel sensitivity to 1-alkanols.
Acta Pharmacologica Sinica
Xie, Chang C; Liu, Hao-wen HW; Pan, Na N; Ding, Jiu-ping JP; Yao, Jing J
Publication Date: 2016-01
Variant appearance in text: KCNQ1: I257A
PubMed Link:
26725740
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: I257A
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: I257A
PubMed Link:
21059661
Variant Present in the following documents:
Main text
View BVdb publication page