KCNH2 c.1478A>T ;(p.Y493F)

Variant ID: 7-150649592-T-A

NM_000238.3(KCNH2):c.1478A>T;(p.Y493F)

This variant was identified in 6 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: 1478A>T; rs199472911
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



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: Y493F
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08

Variant appearance in text: LQT2: Y493F
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Frontiers In Cellular Neuroscience
Villa, Chiara C; Combi, Romina R
Publication Date: 2016

Variant appearance in text: LQT2: Tyr493Phe
PubMed Link: 27064559
Variant Present in the following documents:
  • Main text
  • fncel-10-00081.pdf
View BVdb publication page



Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy
Harkcom, William T WT; Abbott, Geoffrey W GW
Publication Date: 2010-08

Variant appearance in text: LQT2: Y493F
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures.

The Canadian Journal Of Cardiology
Keller, Dagmar I DI; Grenier, Julie J; Christé, Georges G; Dubouloz, Frédérique F; Osswald, Stefan S; Brink, Marijke M; Ficker, Eckhard E; Chahine, Mohamed M
Publication Date: 2009-08

Variant appearance in text: KCNH2: Y493F
PubMed Link: 19668779
Variant Present in the following documents:
  • Main text
View BVdb publication page