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KCNH2 c.1864_1865delinsTG ;(p.L622C)
Variant ID: 7-150648616-AG-CA
NM_000238.3(
KCNH2
):c.1864_1865delinsTG;(p.L622C)
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
An Update on the Structure of hERG.
Frontiers In Pharmacology
Butler, Andrew A; Helliwell, Matthew V MV; Zhang, Yihong Y; Hancox, Jules C JC; Dempsey, Christopher E CE
Publication Date: 2019
Variant appearance in text: KCNH2: L622C
PubMed Link:
32038248
Variant Present in the following documents:
Main text
fphar-10-01572.pdf
View BVdb publication page
Molecular Basis of Altered hERG1 Channel Gating Induced by Ginsenoside Rg3.
Molecular Pharmacology
Gardner, Alison A; Wu, Wei W; Thomson, Steven S; Zangerl-Plessl, Eva-Maria EM; Stary-Weinzinger, Anna A; Sanguinetti, Michael C MC
Publication Date: 2017-10
Variant appearance in text: KCNH2: L622C
PubMed Link:
28705808
Variant Present in the following documents:
Main text
View BVdb publication page
New potential binding determinant for hERG channel inhibitors.
Scientific Reports
Saxena, P P; Zangerl-Plessl, E-M EM; Linder, T T; Windisch, A A; Hohaus, A A; Timin, E E; Hering, S S; Stary-Weinzinger, A A
Publication Date: 2016-04-12
Variant appearance in text: HERG: L622C
PubMed Link:
27067805
Variant Present in the following documents:
srep24182.pdf
View BVdb publication page
HERG1 channel agonists and cardiac arrhythmia.
Current Opinion In Pharmacology
Sanguinetti, Michael C MC
Publication Date: 2014-04
Variant appearance in text: KCNH2: L622C
PubMed Link:
24721650
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: L622C
PubMed Link:
21743002
Variant Present in the following documents:
Main text
View BVdb publication page
Activation of human ether-a-go-go related gene (hERG) potassium channels by small molecules.
Acta Pharmacologica Sinica
Zhou, Ping-zheng PZ; Babcock, Joseph J; Liu, Lian-qing LQ; Li, Min M; Gao, Zhao-bing ZB
Publication Date: 2011-06
Variant appearance in text: LQT2: L622C
PubMed Link:
21623390
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: L622C
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: L622C
PubMed Link:
19892732
Variant Present in the following documents:
Main text
View BVdb publication page