Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G1031fs
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KCNH2

NM_000238.4:p.G1031fs

Associated Papers

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 2023

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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