Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.S147G
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PRKAR1A

NM_002734.5:p.S147G

Associated Papers

A Case of Carney Complex with Pontine Glioma.

Vural Topaktaş G et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

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

Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review.

Wang H et al.

Frontiers in Endocrinology, 2022

MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.

Bouys L et al.

European Journal of Endocrinology, 2021

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

Genetics of tumors of the adrenal cortex.

Bonnet-Serrano F et al.

Endocrine-related Cancer, 2018

Diagnosis and Management of Hereditary Adrenal Cancer.

Angelousi A et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2016

A differential diagnosis of inherited endocrine tumors and their tumor counterparts.

Toledo SP et al.

Clinics (sao Paulo, Brazil), 2013

Precursor lesions of endocrine system neoplasms.

Mete O et al.

Pathology, 2013

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

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

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

Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures.

Papanastasiou L et al.

Hormones (athens, Greece), 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."