KCNH2 c.1330G>A ;(p.E444K)

Variant ID: 7-150649740-C-T

NM_000238.3(KCNH2):c.1330G>A;(p.E444K)

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: E444K; rs201268831
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg
Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS
Publication Date: 2021-07

Variant appearance in text: KCNH2: 1330G>A; Glu444Lys
PubMed Link: 33279945
Variant Present in the following documents:
  • 41431_2020_784_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



PHARMIP: An insilico method to predict genetics that underpin adverse drug reactions.

Methodsx
Zidan, Ahmad M AM; Saad, Eman A EA; Ibrahim, Nasser E NE; Mahmoud, Amal A; Hashem, Medhat H MH; Hemeida, Alaa A AA
Publication Date: 2020

Variant appearance in text: rs201268831
PubMed Link: 32123669
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg
Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH
Publication Date: 2014-03

Variant appearance in text: KCNH2: 1330G>A; Glu444Lys
PubMed Link: 23838598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Repolarization recipes for atrial fibrillation: beyond single channel variants.

Journal Of The American College Of Cardiology
Darbar, Dawood D; Parvez, Babar B; Abraham, Robert R
Publication Date: 2012-03-13

Variant appearance in text: KCNH2: E444K
PubMed Link: 22402075
Variant Present in the following documents:
  • Main text
View BVdb publication page