Article

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel <i>KCNH2</i> : Deep mutational scan of <i>KCNH2</i> trafficking

2020-02-17

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> KCHN2 encodes the K V 11.1 potassium channel responsible for I Kr , a major repolarization current during the cardiomyocyte action potential. Variants in KCNH2 that decrease I Kr can cause Type 2 Long QT syndrome, usually due to mistrafficking to the cell surface. Accurately discriminating between variants with normal and abnormal trafficking would help clinicians iden...

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Literature Corpus work: 92e20f10-c0ba-5bd4-ad00-8dc01b5313fe
DOI: 10.1101/2020.02.17.952606

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