Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S178Fs
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KCNH2

NM_000238.4:p.S178Fs

Associated Papers

Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.

Aizawa Y et al.

Febs Letters, 2004

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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."