Varaico: Literature-Extracted Genetic Variants

Gene:PRKAA2
Variant:p.R239C
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PRKAA2

NM_006252.4:p.R239C

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

Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.

Clausen L et al.

Plos Genetics, 2020

Desmoplastic melanoma with sarcomatoid dedifferentiation.

Kiuru M et al.

The American Journal of Surgical Pathology, 2014

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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."