Varaico: Literature-Extracted Genetic Variants

Gene:PRKACA
Variant:p.L199ins1
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PRKACA

NM_002730.4:p.L199ins1

Associated Papers

Genetics of tumors of the adrenal cortex.

Bonnet-Serrano F et al.

Endocrine-related Cancer, 2018

The genetics of adrenocortical tumors.

Espiard S et al.

Endocrinology and Metabolism Clinics of North America, 2015

PKA catalytic subunit mutations in adrenocortical Cushing's adenoma impair association with the regulatory subunit.

Calebiro D et al.

Nature Communications, 2014

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

Beuschlein F et al.

The New England Journal of Medicine, 2014

Somatic mutations of the catalytic subunit of cyclic AMP-dependent protein kinase (PRKACA) gene in Japanese patients with several adrenal adenomas secreting cortisol [Rapid Communication].

Nakajima Y et al.

Endocrine Journal, 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."