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KCNH2 c.1333_1334delinsGT ;(p.C445V)
Variant ID: 7-150649736-CA-AC
NM_000238.3(
KCNH2
):c.1333_1334delinsGT;(p.C445V)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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UCSC Genome Browser
ClinVar
dbSNP
Publications:
Functional characterization of Kv11.1 (hERG) potassium channels split in the voltage-sensing domain.
Pflugers Archiv : European Journal Of Physiology
de la Peña, Pilar P; Domínguez, Pedro P; Barros, Francisco F
Publication Date: 2018-07
Variant appearance in text: Kv11.1: C445V
PubMed Link:
29572566
Variant Present in the following documents:
Main text
424_2018_Article_2135.pdf
View BVdb publication page
Gating mechanism of Kv11.1 (hERG) K+ channels without covalent connection between voltage sensor and pore domains.
Pflugers Archiv : European Journal Of Physiology
de la Peña, Pilar P; Domínguez, Pedro P; Barros, Francisco F
Publication Date: 2018-03
Variant appearance in text: Kv11.1: C445V
PubMed Link:
29270671
Variant Present in the following documents:
Main text
424_2017_Article_2093.pdf
View BVdb publication page
The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues.
Biophysical Journal
Dou, Ying Y; Macdonald, Logan C LC; Wu, Yue Y; Fedida, David D
Publication Date: 2017-11-07
Variant appearance in text: Kv11.1: C445V
PubMed Link:
29117522
Variant Present in the following documents:
Main text
View BVdb publication page
Components of gating charge movement and S4 voltage-sensor exposure during activation of hERG channels.
The Journal Of General Physiology
Wang, Zhuren Z; Dou, Ying Y; Goodchild, Samuel J SJ; Es-Salah-Lamoureux, Zeineb Z; Fedida, David D
Publication Date: 2013-04
Variant appearance in text: Kv11.1: C445V
PubMed Link:
23478995
Variant Present in the following documents:
JGP_201210942.pdf
View BVdb publication page
Blockade of permeation by potassium but normal gating of the G628S nonconducting hERG channel mutant.
Biophysical Journal
Es-Salah-Lamoureux, Zeineb Z; Xiong, Ping Yu PY; Goodchild, Samuel J SJ; Ahern, Christopher A CA; Fedida, David D
Publication Date: 2011-08-03
Variant appearance in text: LQT2: C445V
PubMed Link:
21806934
Variant Present in the following documents:
Main text
View BVdb publication page
Fluorescence-tracking of activation gating in human ERG channels reveals rapid S4 movement and slow pore opening.
Plos One
Es-Salah-Lamoureux, Zeineb Z; Fougere, Robert R; Xiong, Ping Yu PY; Robertson, Gail A GA; Fedida, David D
Publication Date: 2010-05-28
Variant appearance in text: HERG: C445V
PubMed Link:
20526358
Variant Present in the following documents:
pone.0010876.pdf
View BVdb publication page