Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.D102H
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KCNH2

NM_000238.4:p.D102H

Associated Papers

A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.

Alameh M et al.

Frontiers in Physiology, 2023

36860515 (PubMed )
Supplement: Table1.XLSX › missense_variants

Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.

Aishwarya R et al.

Frontiers in Physiology, 2021

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
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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."