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KCNQ1 c.667_668delinsTG ;(p.A223C)
Variant ID: 11-2592617-GC-TG
NM_000218.2(
KCNQ1
):c.667_668delinsTG;(p.A223C)
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:
KCNQ1 channel modulation by KCNE proteins via the voltage-sensing domain.
The Journal Of Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2015-06-15
Variant appearance in text: KCNQ1: A223C
PubMed Link:
25603957
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE1 divides the voltage sensor movement in KCNQ1/KCNE1 channels into two steps.
Nature Communications
Barro-Soria, Rene R; Rebolledo, Santiago S; Liin, Sara I SI; Perez, Marta E ME; Sampson, Kevin J KJ; Kass, Robert S RS; Larsson, H Peter HP
Publication Date: 2014-04-28
Variant appearance in text: KCNQ1: A223C
PubMed Link:
24769622
Variant Present in the following documents:
Main text
nihms-580845.pdf
View BVdb publication page
S1 constrains S4 in the voltage sensor domain of Kv7.1 K+ channels.
Plos One
Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Shamgar, Liora L; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09
Variant appearance in text: Kv7.1: A223C
PubMed Link:
18398461
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE1 and KCNE3 stabilize and/or slow voltage sensing S4 segment of KCNQ1 channel.
The Journal Of General Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2007-09
Variant appearance in text: KCNQ1: A223C
PubMed Link:
17698596
Variant Present in the following documents:
Main text
jgp1300269.pdf
View BVdb publication page