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KCNQ1 c.479A>C ;(p.E160A)
Variant ID: 11-2591859-A-C
NM_000218.2(
KCNQ1
):c.479A>C;(p.E160A)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
How to Connect Cardiac Excitation to the Atomic Interactions of Ion Channels.
Biophysical Journal
Silva, Jonathan R JR
Publication Date: 2018-01-23
Variant appearance in text: KCNQ1: E160A
PubMed Link:
29401425
Variant Present in the following documents:
main.pdf
View BVdb publication page
Bridging the genotype-phenotype gap: what does it take?
The Journal Of Physiology
Gjuvsland, Arne B AB; Vik, Jon Olav JO; Beard, Daniel A DA; Hunter, Peter J PJ; Omholt, Stig W SW
Publication Date: 2013-04-15
Variant appearance in text: KCNQ1: E160A
PubMed Link:
23401613
Variant Present in the following documents:
tjp0591-2055.pdf
View BVdb publication page
Ion channel associated diseases: overview of molecular mechanisms.
Chemical Reviews
Zaydman, Mark A MA; Silva, Jonathan R JR; Cui, Jianmin J
Publication Date: 2012-12-12
Variant appearance in text: KCNQ1: E160A
PubMed Link:
23151230
Variant Present in the following documents:
Main text
View BVdb publication page
Multi-scale electrophysiology modeling: from atom to organ.
The Journal Of General Physiology
Silva, Jonathan R JR; Rudy, Yoram Y
Publication Date: 2010-06
Variant appearance in text: KCNQ1: E160A
PubMed Link:
20513759
Variant Present in the following documents:
Main text
JGP_200910358.pdf
View BVdb publication page
A multiscale model linking ion-channel molecular dynamics and electrostatics to the cardiac action potential.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Silva, Jonathan R JR; Pan, Hua H; Wu, Dick D; Nekouzadeh, Ali A; Decker, Keith F KF; Cui, Jianmin J; Baker, Nathan A NA; Sept, David D; Rudy, Yoram Y
Publication Date: 2009-07-07
Variant appearance in text: KCNQ1: E160A
PubMed Link:
19549851
Variant Present in the following documents:
Main text
View BVdb publication page
Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.
The Journal Of Physiology
Restier, Lioara L; Cheng, Lan L; Sanguinetti, Michael C MC
Publication Date: 2008-09-01
Variant appearance in text: KCNQ1: E160A
PubMed Link:
18599533
Variant Present in the following documents:
Main text
View BVdb publication page