Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G345R
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KCNH2

NM_000238.4:p.G345R

Associated Papers

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

Zareba W et al.

Journal of Cardiovascular Electrophysiology, 2003

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).

Wilde AA et al.

Journal of the American College of Cardiology, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."