KCNH2 c.1417A>C ;(p.T473P)

Variant ID: 7-150649653-T-G

NM_000238.3(KCNH2):c.1417A>C;(p.T473P)

This variant was identified in 5 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: 1417A>C; rs199473512
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



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: T473P
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.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: T473P
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proarrhythmic and Torsadogenic Effects of Potassium Channel Blockers in Patients.

Cardiac Electrophysiology Clinics
McCauley, Mark M; Vallabhajosyula, Sharath S; Darbar, Dawood D
Publication Date: 2016-06

Variant appearance in text: KCNH2: T473P
PubMed Link: 27261836
Variant Present in the following documents:
  • Main text
View BVdb publication page



Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica
Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX
Publication Date: 2014-12

Variant appearance in text: KCNH2: T473P
PubMed Link: 25418379
Variant Present in the following documents:
  • Main text
View BVdb publication page