Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.V512M
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KCNA5

NM_002234.4:p.V512M

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd

Mutations throughout the S6 region of the hKv1.5 channel alter the stability of the activation gate.

Rich TC et al.

American Journal of Physiology. Cell Physiology, 2002

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