Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R228W
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KCNQ1

NM_000218.3:p.R228W

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents.

Nakajima T et al.

Frontiers in Physiology, 2024

KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.

Shamgar L et al.

Plos One, 2008

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