Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.R96*
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PRKAR1A

NM_002734.5:p.R96*

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

Custom target-sequencing in triple-negative and luminal breast cancer from young Brazilian patients.

Serio PAMP et al.

Clinics (sao Paulo, Brazil), 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

Fibrolamellar carcinoma in the Carney complex: PRKAR1A loss instead of the classic DNAJB1-PRKACA fusion.

Graham RP et al.

Hepatology (baltimore, Md.), 2018

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

The regulatory 1α subunit of protein kinase A modulates renal cystogenesis.

Ye H et al.

American Journal of Physiology. Renal Physiology, 2017

Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.

Lowe KM et al.

The American Journal of Surgical Pathology, 2017

Consistent copy number changes and recurrent PRKAR1A mutations distinguish Melanotic Schwannomas from Melanomas: SNP-array and next generation sequencing analysis.

Wang L et al.

Genes, Chromosomes & Cancer, 2015

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

[Carney complex. Clinical, pathological and genetic features in two generations of a family].

Rothacker D et al.

Der Pathologe, 2008

Large deletions of the PRKAR1A gene in Carney complex.

Horvath A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X).

Urban C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007

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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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."