KCNQ1 c.1101G>C ;(p.Q367H)

Variant ID: 11-2606510-G-C

NM_000218.2(KCNQ1):c.1101G>C;(p.Q367H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: KCNQ1: Q367H
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
  • fphar-11-00550.pdf
View BVdb publication page



Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology
Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ
Publication Date: 2012-12-18

Variant appearance in text: KCNQ1: Q367H
PubMed Link: 23158531
Variant Present in the following documents:
  • Main text
View BVdb publication page