Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G306V
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KCNH2

NM_000238.4:p.G306V

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

[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].

Li CL et al.

Zhonghua Nei Ke Za Zhi, 2007

[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].

Liu WL et al.

Zhonghua Nei Ke Za Zhi, 2006

[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].

Liu WL et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2005

[The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].

Li P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.

Liu W et al.

Chinese Medical Journal, 2003

KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Liu W et al.

Human Mutation, 2002

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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."