Varaico: Literature-Extracted Genetic Variants

Gene:PRKAA2
Variant:p.E100K
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PRKAA2

NM_006252.4:p.E100K

Associated Papers

Frequent loss-of-function mutations in the AMPK-α2 catalytic subunit suggest a tumour suppressor role in human skin cancers.

Ross FA et al.

The Biochemical Journal, 2023

PRKAG2 mutations presenting in infancy.

Torok RD et al.

Journal of Inherited Metabolic Disease, 2017

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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."