KCNH2 c.1601G>T ;(p.R534L)

Variant ID: 7-150648880-C-A

NM_000238.3(KCNH2):c.1601G>T;(p.R534L)

This variant was identified in 2 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: 1601G>T; rs199473516
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.

The Journal Of Membrane Biology
McBride, Christie M CM; Smith, Ashley M AM; Smith, Jennifer L JL; Reloj, Allison R AR; Velasco, Ellyn J EJ; Powell, Jonathan J; Elayi, Claude S CS; Bartos, Daniel C DC; Burgess, Don E DE; Delisle, Brian P BP
Publication Date: 2013-05

Variant appearance in text: Kv11.1: R534L
PubMed Link: 23546015
Variant Present in the following documents:
  • Main text
View BVdb publication page