KCNH2 c.1943G>C ;(p.G648A)

Variant ID: 7-150648538-C-G

NM_000238.3(KCNH2):c.1943G>C;(p.G648A)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Scientific Reports
Fransson, Susanne S; Martinez-Monleon, Angela A; Johansson, Mathias M; Sjöberg, Rose-Marie RM; Björklund, Caroline C; Ljungman, Gustaf G; Ek, Torben T; Kogner, Per P; Martinsson, Tommy T
Publication Date: 2020-12-31

Variant appearance in text: KCNH2: 1943G>C
PubMed Link: 33384420
Variant Present in the following documents:
  • 41598_2020_78370_MOESM2_ESM.xlsx, sheet 3
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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: G648A
PubMed Link: 32038248
Variant Present in the following documents:
  • Main text
  • fphar-10-01572.pdf
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Investigating the state dependence of drug binding in hERG channels using a trapped-open channel phenotype.

Scientific Reports
Thouta, Samrat S; Lo, Garman G; Grajauskas, Lukas L; Claydon, Tom T
Publication Date: 2018-03-21

Variant appearance in text: LQT2: G648A
PubMed Link: 29563525
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_23346.pdf
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Interactions between amiodarone and the hERG potassium channel pore determined with mutagenesis and in silico docking.

Biochemical Pharmacology
Zhang, Yihong Y; Colenso, Charlotte K CK; El Harchi, Aziza A; Cheng, Hongwei H; Witchel, Harry J HJ; Dempsey, Chris E CE; Hancox, Jules C JC
Publication Date: 2016-08-01

Variant appearance in text: HERG: G648A
PubMed Link: 27256139
Variant Present in the following documents:
  • Main text
  • main.pdf
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Molecular basis of hERG potassium channel blockade by the class Ic antiarrhythmic flecainide.

Journal Of Molecular And Cellular Cardiology
Melgari, Dario D; Zhang, Yihong Y; El Harchi, Aziza A; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2015-09

Variant appearance in text: HERG: G648A
PubMed Link: 26159617
Variant Present in the following documents:
  • Main text
  • main.pdf
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The Link between Inactivation and High-Affinity Block of hERG1 Channels.

Molecular Pharmacology
Wu, Wei W; Gardner, Alison A; Sanguinetti, Michael C MC
Publication Date: 2015-06

Variant appearance in text: KCNH2: G648A
PubMed Link: 25855787
Variant Present in the following documents:
  • Main text
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Stereoselective Inhibition of the hERG1 Potassium Channel.

Frontiers In Pharmacology
Grilo, Liliana Sintra LS; Carrupt, Pierre-Alain PA; Abriel, Hugues H
Publication Date: 2010

Variant appearance in text: KCNH2: G648A
PubMed Link: 21833176
Variant Present in the following documents:
  • Main text
  • fphar-01-00137.pdf
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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: G648A
PubMed Link: 21743002
Variant Present in the following documents:
  • Main text
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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: G648A
PubMed Link: 19892732
Variant Present in the following documents:
  • Main text
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Molecular determinants of hERG channel block by terfenadine and cisapride.

Journal Of Pharmacological Sciences
Kamiya, Kaichiro K; Niwa, Ryoko R; Morishima, Mikio M; Honjo, Haruo H; Sanguinetti, Michael C MC
Publication Date: 2008-11

Variant appearance in text: HERG: G648A
PubMed Link: 18987434
Variant Present in the following documents:
  • Main text
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The 5-HT2 antagonist ketanserin is an open channel blocker of human cardiac ether-à-go-go-related gene (hERG) potassium channels.

British Journal Of Pharmacology
Tang, Q Q; Li, Z-Q ZQ; Li, W W; Guo, J J; Sun, H-Y HY; Zhang, X-H XH; Lau, C-P CP; Tse, H-F HF; Zhang, S S; Li, G-R GR
Publication Date: 2008-10

Variant appearance in text: HERG: G648A
PubMed Link: 18574455
Variant Present in the following documents:
  • Main text
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Structural basis of action for a human ether-a-go-go-related gene 1 potassium channel activator.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Perry, Matthew M; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2007-08-21

Variant appearance in text: KCNH2: G648A
PubMed Link: 17693551
Variant Present in the following documents:
  • Main text
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Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chen, Jun J; Seebohm, Guiscard G; Sanguinetti, Michael C MC
Publication Date: 2002-09-17

Variant appearance in text: HERG: G648A
PubMed Link: 12209010
Variant Present in the following documents:
  • Main text
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A structural basis for drug-induced long QT syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Mitcheson, J S JS; Chen, J J; Lin, M M; Culberson, C C; Sanguinetti, M C MC
Publication Date: 2000-10-24

Variant appearance in text: HERG: G648A
PubMed Link: 11005845
Variant Present in the following documents:
  • Main text
View BVdb publication page