Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.S9N
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PRKAR1A

NM_002734.5:p.S9N

Associated Papers

Carney complex: an update.

Correa R et al.

European Journal of Endocrinology, 2015

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

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

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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."