Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1B
Variant:p.I40V
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PRKAR1B

NM_001164760.2:p.I40V

Associated Papers

Allosteric modulation of protein kinase A in individuals affected by NLPD-PKA, a neurodegenerative disease in which the PRKAR1B L50R variant is expressed.

Benjamin-Zukerman T et al.

The Febs Journal, 2025

Molecular Mechanisms of Functional Adrenocortical Adenoma and Carcinoma: Genetic Characterization and Intracellular Signaling Pathway.

Shimada H et al.

Biomedicines, 2021

Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.

Drougat L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."