Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.D183Y
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PRKAR1A

NM_002734.5:p.D183Y

Associated Papers

CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant.

Ikeya A et al.

Plos One, 2020

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

Rhayem Y et al.

The Journal of Biological Chemistry, 2015

Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Salpea P et al.

Molecular and Cellular Endocrinology, 2014

Acrodysostosis syndromes.

Silve C et al.

Bonekey Reports, 2012

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

Nagasaki K et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.

Anselmo J et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues?

Almeida MQ et al.

Molecular and Cellular Endocrinology, 2011

Carney complex and other conditions associated with micronodular adrenal hyperplasias.

Almeida MQ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A et al.

Human Mutation, 2010

Carney complex and lentiginosis.

Horvath A et al.

Pigment Cell & Melanoma Research, 2009

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Unraveling the molecular basis of micronodular adrenal hyperplasia.

Horvath A et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2008

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.

Greene EL et al.

Human Mutation, 2008

The transcriptome that mediates increased cyclic adenosine monophosphate signaling in PRKAR1A defects and other settings.

Azevedo MF et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0

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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."