KCNH2 c.1967T>G ;(p.F656C)

Variant ID: 7-150648187-A-C

NM_000238.3(KCNH2):c.1967T>G;(p.F656C)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06

Variant appearance in text: KCNH2: F656C; rs199472977
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
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Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022

Variant appearance in text: KCNH2: F656C
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.pdf
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Research Progress on Natural Products' Therapeutic Effects on Atrial Fibrillation by Regulating Ion Channels.

Cardiovascular Therapeutics
He, Jinshan J; Li, Sicong S; Ding, Yumeng Y; Tong, Yujia Y; Li, Xuebin X
Publication Date: 2022

Variant appearance in text: HERG: F656C
PubMed Link: 35387267
Variant Present in the following documents:
  • CDTP2022-4559809.pdf
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Molecular Insights Into the Gating Kinetics of the Cardiac hERG Channel, Illuminated by Structure and Molecular Dynamics.

Frontiers In Pharmacology
Zequn, Zheng Z; Jiangfang, Lian L
Publication Date: 2021

Variant appearance in text: Kv11.1: F656C
PubMed Link: 34168566
Variant Present in the following documents:
  • Main text
  • fphar-12-687007.pdf
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Lipid regulation of hERG1 channel function.

Nature Communications
Miranda, Williams E WE; Guo, Jiqing J; Mesa-Galloso, Haydee H; Corradi, Valentina V; Lees-Miller, James P JP; Tieleman, D Peter DP; Duff, Henry J HJ; Noskov, Sergei Yu SY
Publication Date: 2021-03-03

Variant appearance in text: HERG: F656C
PubMed Link: 33658490
Variant Present in the following documents:
  • 41467_2021_Article_21681.pdf
  • 41467_2021_21681_MOESM2_ESM.pdf
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Allosteric Coupling Between Drug Binding and the Aromatic Cassette in the Pore Domain of the hERG1 Channel: Implications for a State-Dependent Blockade.

Frontiers In Pharmacology
Kudaibergenova, Meruyert M; Guo, Jiqing J; Khan, Hanif M HM; Zahid, Farhan F; Lees-Miller, James J; Noskov, Sergei Yu SY; Duff, Henry J HJ
Publication Date: 2020

Variant appearance in text: HERG: F656C
PubMed Link: 32694995
Variant Present in the following documents:
  • fphar-11-00914.pdf
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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: LQT2: F656C
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
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Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome.

Journal Of Molecular And Cellular Cardiology
Cheng, Hongwei H; Du, Chunyun C; Zhang, Yihong Y; James, Andrew F AF; Dempsey, Christopher E CE; Abdala, Ana P AP; Hancox, Jules C JC
Publication Date: 2019-10

Variant appearance in text: KCNH2: F656C
PubMed Link: 31362019
Variant Present in the following documents:
  • Main text
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The Pore-Lipid Interface: Role of Amino-Acid Determinants of Lipophilic Access by Ivabradine to the hERG1 Pore Domain.

Molecular Pharmacology
Perissinotti, Laura L; Guo, Jiqing J; Kudaibergenova, Meruyert M; Lees-Miller, James J; Ol'khovich, Marina M; Sharapova, Angelica A; Perlovich, German L GL; Muruve, Daniel A DA; Gerull, Brenda B; Noskov, Sergei Yu SY; Duff, Henry J HJ
Publication Date: 2019-08

Variant appearance in text: Kv11.1: F656C
PubMed Link: 31182542
Variant Present in the following documents:
  • Main text
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An in Vitro Assay of hERG K Channel Potency for a New EGFR Inhibitor FHND004.

Frontiers In Pharmacology
Jin, Tao T; Hu, Bingxue B; Chen, Shanshan S; Wang, Qiang Q; Dong, Xue X; Zhang, Yin Y; Zhu, Yongqiang Y; Zhang, Zhao Z
Publication Date: 2018

Variant appearance in text: KCNH2: F656C
PubMed Link: 29904349
Variant Present in the following documents:
  • Main text
  • fphar-09-00577.pdf
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Pore size matters for potassium channel conductance.

The Journal Of General Physiology
Naranjo, David D; Moldenhauer, Hans H; Pincuntureo, Matías M; Díaz-Franulic, Ignacio I
Publication Date: 2016-10

Variant appearance in text: KCNH2: F656C
PubMed Link: 27619418
Variant Present in the following documents:
  • Main text
  • JGP_201611625.pdf
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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24

Variant appearance in text: LQT2: F656C
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
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Molecular determinants of pentamidine-induced hERG trafficking inhibition.

Molecular Pharmacology
Dennis, Adrienne T AT; Wang, Lu L; Wan, Hanlin H; Nassal, Drew D; Deschenes, Isabelle I; Ficker, Eckhard E
Publication Date: 2012-02

Variant appearance in text: HERG: F656C
PubMed Link: 22046004
Variant Present in the following documents:
  • Main text
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Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology
Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT
Publication Date: 2010-08

Variant appearance in text: LQT2: F656C
PubMed Link: 20224422
Variant Present in the following documents:
  • Main text
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hERG gating microdomains defined by S6 mutagenesis and molecular modeling.

The Journal Of General Physiology
Wynia-Smith, Sarah L SL; Gillian-Daniel, Anne Lynn AL; Satyshur, Kenneth A KA; Robertson, Gail A GA
Publication Date: 2008-11

Variant appearance in text: KCNH2: F656C
PubMed Link: 18955593
Variant Present in the following documents:
  • jgp1320507.pdf
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Doxazosin induces apoptosis of cells expressing hERG K+ channels.

European Journal Of Pharmacology
Thomas, Dierk D; Bloehs, Ramona R; Koschny, Ronald R; Ficker, Eckhard E; Sykora, Jaromir J; Kiehn, Johann J; Schlömer, Kathrin K; Gierten, Jakob J; Kathöfer, Sven S; Zitron, Edgar E; Scholz, Eberhard P EP; Kiesecker, Claudia C; Katus, Hugo A HA; Karle, Christoph A CA
Publication Date: 2008-01-28

Variant appearance in text: HERG: F656C
PubMed Link: 18054910
Variant Present in the following documents:
  • Main text
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Coexistence of hERG current block and disruption of protein trafficking in ketoconazole-induced long QT syndrome.

British Journal Of Pharmacology
Takemasa, H H; Nagatomo, T T; Abe, H H; Kawakami, K K; Igarashi, T T; Tsurugi, T T; Kabashima, N N; Tamura, M M; Okazaki, M M; Delisle, B P BP; January, C T CT; Otsuji, Y Y
Publication Date: 2008-02

Variant appearance in text: KCNH2: F656C
PubMed Link: 17965736
Variant Present in the following documents:
  • Main text
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Drug-induced long QT syndrome: hERG K+ channel block and disruption of protein trafficking by fluoxetine and norfluoxetine.

British Journal Of Pharmacology
Rajamani, S S; Eckhardt, L L LL; Valdivia, C R CR; Klemens, C A CA; Gillman, B M BM; Anderson, C L CL; Holzem, K M KM; Delisle, B P BP; Anson, B D BD; Makielski, J C JC; January, C T CT
Publication Date: 2006-11

Variant appearance in text: LQT2: F656C
PubMed Link: 16967046
Variant Present in the following documents:
  • Main text
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Comparison of HERG channel blocking effects of various beta-blockers-- implication for clinical strategy.

British Journal Of Pharmacology
Kawakami, Kazunobu K; Nagatomo, Toshihisa T; Abe, Haruhiko H; Kikuchi, Kan K; Takemasa, Hiroko H; Anson, Blake D BD; Delisle, Brian P BP; January, Craig T CT; Nakashima, Yasuhide Y
Publication Date: 2006-03

Variant appearance in text: HERG: F656C
PubMed Link: 16314852
Variant Present in the following documents:
  • Main text
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Blockade of HERG cardiac K+ current by antifungal drug miconazole.

British Journal Of Pharmacology
Kikuchi, Kan K; Nagatomo, Toshihisa T; Abe, Haruhiko H; Kawakami, Kazunobu K; Duff, Henry J HJ; Makielski, Jonathan C JC; January, Craig T CT; Nakashima, Yasuhide Y
Publication Date: 2005-03

Variant appearance in text: HERG: F656C
PubMed Link: 15778703
Variant Present in the following documents:
  • Main text
View BVdb publication page