KCNH2 c.173A>C ;(p.E58A)

Variant ID: 7-150671933-T-G

NM_000238.3(KCNH2):c.173A>C;(p.E58A)

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: 173A>C; rs199472847
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ
Publication Date: 2020-10

Variant appearance in text: Kv11.1: E58A
PubMed Link: 32475984
Variant Present in the following documents:
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: E58A
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.

Frontiers In Physiology
Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM
Publication Date: 2018

Variant appearance in text: LQT2: E58A
PubMed Link: 29725305
Variant Present in the following documents:
  • Main text
  • fphys-09-00397.pdf
View BVdb publication page



Determining the pathogenicity of genetic variants associated with cardiac channelopathies.

Scientific Reports
Campuzano, Oscar O; Allegue, Catarina C; Fernandez, Anna A; Iglesias, Anna A; Brugada, Ramon R
Publication Date: 2015-01-22

Variant appearance in text: KCNH2: E58A
PubMed Link: 25608792
Variant Present in the following documents:
  • Main text
  • srep07953.pdf
View BVdb publication page