KCNH2 c.1852A>G ;(p.T618A)

Variant ID: 7-150648629-T-C

NM_000238.3(KCNH2):c.1852A>G;(p.T618A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Heliyon
Butler, Andrew A; Zhang, Yihong Y; Stuart, A Graham AG; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2019-04

Variant appearance in text: LQT2: T618A
PubMed Link: 31049424
Variant Present in the following documents:
  • Main text
  • main.pdf
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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: T618A
PubMed Link: 25820318
Variant Present in the following documents:
  • Main text
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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: T618A
PubMed Link: 25063820
Variant Present in the following documents:
  • Main text
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Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.

The Journal Of Biological Chemistry
Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-04-19

Variant appearance in text: Kv11.1: T618A
PubMed Link: 23471968
Variant Present in the following documents:
  • Main text
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Molecular coupling in the human ether-a-go-go-related gene-1 (hERG1) K+ channel inactivation pathway.

The Journal Of Biological Chemistry
Ferrer, Tania T; Cordero-Morales, Julio F JF; Arias, Marcelo M; Ficker, Eckhard E; Medovoy, David D; Perozo, Eduardo E; Tristani-Firouzi, Martin M
Publication Date: 2011-11-11

Variant appearance in text: KCNH2: T618A
PubMed Link: 21908602
Variant Present in the following documents:
  • Main text
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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: T618A
PubMed Link: 21743002
Variant Present in the following documents:
  • Main text
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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: T618A
PubMed Link: 20876384
Variant Present in the following documents:
  • Main text
View BVdb publication page