Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G1036fs
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KCNH2

NM_000238.4:p.G1036fs

Associated Papers

Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.

Gong Q et al.

Gene, 2014

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.

Johnson JN et al.

Neurology, 2009

Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus.

Kupershmidt S et al.

The Journal of Biological Chemistry, 2002

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

Splawski I et al.

Circulation, 2000

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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."