Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B3
Variant:p.V213M
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ATP2B3

NM_001001344.3:p.V213M

Associated Papers

Recurrent CACNA1HE282K is a gain-of-function mutation associated with primary hyperaldosteronism.

Li R et al.

European Journal of Endocrinology, 2026

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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."