Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.K362R
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KCNH2

NM_000238.4:p.K362R

Associated Papers

Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Yee LA et al.

Journal of the American Heart Association, 2022

36102233 (PubMed )
Supplement: JAH3-11-e025108-s001.pdf

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

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Clemens DJ et al.

Heart Rhythm, 2018

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