KCNH2 c.1955A>G ;(p.Y652C)

Variant ID: 7-150648199-T-C

NM_000238.3(KCNH2):c.1955A>G;(p.Y652C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New Patients.

Biomolecules
Ono, Makoto M; Burgess, Don E DE; Schroder, Elizabeth A EA; Elayi, Claude S CS; Anderson, Corey L CL; January, Craig T CT; Sun, Bin B; Immadisetty, Kalyan K; Kekenes-Huskey, Peter M PM; Delisle, Brian P BP
Publication Date: 2020-08-04

Variant appearance in text: LQT2: Y652C
PubMed Link: 32759882
Variant Present in the following documents:
  • Main text
  • biomolecules-10-01144.pdf
View BVdb publication page



Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology
Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT
Publication Date: 2010-08

Variant appearance in text: LQT2: Y652C
PubMed Link: 20224422
Variant Present in the following documents:
  • Main text
View BVdb publication page