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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
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: T618A
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: T618A
PubMed Link:
25063820
Variant Present in the following documents:
Main text
View BVdb publication page
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
View BVdb publication page
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
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: T618A
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: T618A
PubMed Link:
20876384
Variant Present in the following documents:
Main text
View BVdb publication page