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KCNQ1 c.676_677delinsTG ;(p.A226C)
Variant ID: 11-2592626-GC-TG
NM_000218.2(
KCNQ1
):c.676_677delinsTG;(p.A226C)
This variant was identified in 10 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.
Communications Biology
Wu, Xiaoan X; Perez, Marta E ME; Noskov, Sergei Yu SY; Larsson, H Peter HP
Publication Date: 2021-07-20
Variant appearance in text: KCNQ1: A226C
PubMed Link:
34285340
Variant Present in the following documents:
Main text
42003_2021_Article_2418.pdf
View BVdb publication page
The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.
Biochimica Et Biophysica Acta. Biomembranes
Dixit, Gunjan G; Dabney-Smith, Carole C; Lorigan, Gary A GA
Publication Date: 2020-05-01
Variant appearance in text: KCNQ1: A226C
PubMed Link:
31825788
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE3 acts by promoting voltage sensor activation in KCNQ1.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Barro-Soria, Rene R; Perez, Marta E ME; Larsson, H Peter HP
Publication Date: 2015-12-29
Variant appearance in text: KCNQ1: A226C
PubMed Link:
26668384
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Gene
Abbott, Geoffrey W GW
Publication Date: 2016-01-15
Variant appearance in text: KCNQ1: A226C
PubMed Link:
26410412
Variant Present in the following documents:
Main text
View BVdb publication page
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: A226C
PubMed Link:
25603957
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE1 remodels the voltage sensor of Kv7.1 to modulate channel function.
Biophysical Journal
Wu, Dick D; Pan, Hua H; Delaloye, Kelli K; Cui, Jianmin J
Publication Date: 2010-12-01
Variant appearance in text: Kv7.1: A226C
PubMed Link:
21112284
Variant Present in the following documents:
Main text
View BVdb publication page
Location of KCNE1 relative to KCNQ1 in the I(KS) potassium channel by disulfide cross-linking of substituted cysteines.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Chung, David Y DY; Chan, Priscilla J PJ; Bankston, John R JR; Yang, Lin L; Liu, Guoxia G; Marx, Steven O SO; Karlin, Arthur A; Kass, Robert S RS
Publication Date: 2009-01-20
Variant appearance in text: KCNQ1: A226C
PubMed Link:
19131515
Variant Present in the following documents:
Main text
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: A226C
PubMed Link:
18398461
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE peptides differently affect voltage sensor equilibrium and equilibration rates in KCNQ1 K+ channels.
The Journal Of General Physiology
Rocheleau, Jessica M JM; Kobertz, William R WR
Publication Date: 2008-01
Variant appearance in text: KCNQ1: A226C
PubMed Link:
18079560
Variant Present in the following documents:
Main text
jgp1310059.pdf
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: A226C
PubMed Link:
17698596
Variant Present in the following documents:
Main text
View BVdb publication page