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KCNH2 c.1625A>G ;(p.Y542C)
Variant ID: 7-150648856-T-C
NM_000238.3(
KCNH2
):c.1625A>G;(p.Y542C)
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:
C-Linker Accounts for Differential Sensitivity of ERG1 and ERG2 K+ Channels to RPR260243-Induced Slow Deactivation.
Molecular Pharmacology
Gardner, Alison A; Sanguinetti, Michael C MC
Publication Date: 2015-07
Variant appearance in text: KCNH2: Y542C
PubMed Link:
25888115
Variant Present in the following documents:
Main text
View BVdb publication page
Getting to the heart of hERG K(+) channel gating.
The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai-Ann CA; Mann, Stefan A SA; Sadrieh, Arash A; Imtiaz, Mohammad M; Hill, Adam P AP; Vandenberg, Jamie I JI
Publication Date: 2015-06-15
Variant appearance in text: Kv11.1: Y542C
PubMed Link:
25820318
Variant Present in the following documents:
Main text
View BVdb publication page
Direct interaction of eag domains and cyclic nucleotide-binding homology domains regulate deactivation gating in hERG channels.
The Journal Of General Physiology
Gianulis, Elena C EC; Liu, Qiangni Q; Trudeau, Matthew C MC
Publication Date: 2013-10
Variant appearance in text: HERG: Y542C
PubMed Link:
24043860
Variant Present in the following documents:
JGP_201310995.pdf
View BVdb publication page
Voltage-dependent gating of HERG potassium channels.
Frontiers In Pharmacology
Cheng, Yen May YM; Claydon, Tom W TW
Publication Date: 2012
Variant appearance in text: Kv11.1: Y542C
PubMed Link:
22586397
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants of interactions between the N-terminal domain and the transmembrane core that modulate hERG K+ channel gating.
Plos One
Fernández-Trillo, Jorge J; Barros, Francisco F; Machín, Angeles A; Carretero, Luis L; Domínguez, Pedro P; de la Peña, Pilar P
Publication Date: 2011
Variant appearance in text: HERG: Y542C
PubMed Link:
21935437
Variant Present in the following documents:
pone.0024674.pdf
View BVdb publication page
Thermodynamic and kinetic properties of amino-terminal and S4-S5 loop HERG channel mutants under steady-state conditions.
Biophysical Journal
Alonso-Ron, Carlos C; de la Peña, Pilar P; Miranda, Pablo P; Domínguez, Pedro P; Barros, Francisco F
Publication Date: 2008-05-15
Variant appearance in text: HERG: Y542C
PubMed Link:
18222997
Variant Present in the following documents:
Main text
View BVdb publication page