Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.R146S
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PRKAR1A

NM_002734.5:p.R146S

Associated Papers

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Sun J et al.

Frontiers in Endocrinology, 2024

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

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

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

Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).

Tadjine M et al.

Clinical Endocrinology, 2008

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

PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes.

Robinson-White AJ et al.

Cancer Research, 2006

17079485 (PubMed )
Supplement: 00085472can062200-sup-supplementary_table_1.pdf

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.

Robinson-White A et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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