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KCNH2 c.1933_1935delinsTGT ;(p.M645C)
Variant ID: 7-150648546-CAT-ACA
NM_000238.3(
KCNH2
):c.1933_1935delinsTGT;(p.M645C)
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:
Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.
Journal Of Arrhythmia
El Harchi, Aziza A; Brincourt, Oriane O
Publication Date: 2022-08
Variant appearance in text: LQT2: M645C
PubMed Link:
35936037
Variant Present in the following documents:
Main text
JOA3-38-554.pdf
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: HERG: M645C
PubMed Link:
25820318
Variant Present in the following documents:
Main text
View BVdb publication page
Cooperative subunit interactions mediate fast C-type inactivation of hERG1 K+ channels.
The Journal Of Physiology
Wu, Wei W; Gardner, Alison A; Sanguinetti, Michael C MC
Publication Date: 2014-10-15
Variant appearance in text: KCNH2: Met645Cys
PubMed Link:
25063820
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants for activation of human ether-à-go-go-related gene 1 potassium channels by 3-nitro-n-(4-phenoxyphenyl) benzamide.
Molecular Pharmacology
Garg, Vivek V; Stary-Weinzinger, Anna A; Sachse, Frank F; Sanguinetti, Michael C MC
Publication Date: 2011-10
Variant appearance in text: KCNH2: M645C
PubMed Link:
21743002
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.
Molecular Pharmacology
Grunnet, Morten M; Abbruzzese, Jennifer J; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2011-01
Variant appearance in text: LQT2: M645C
PubMed Link:
20876384
Variant Present in the following documents:
Main text
View BVdb publication page
PD-118057 contacts the pore helix of hERG1 channels to attenuate inactivation and enhance K+ conductance.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Perry, Matthew M; Sachse, Frank B FB; Abbruzzese, Jennifer J; Sanguinetti, Michael C MC
Publication Date: 2009-11-24
Variant appearance in text: KCNH2: M645C
PubMed Link:
19892732
Variant Present in the following documents:
Main text
View BVdb publication page