Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.Q166*
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PRKAR1A

NM_002734.5:p.Q166*

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

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.

Sun Y et al.

Archives of Iranian Medicine, 2023

Failure to Thrive in the Context of Carney Complex.

Tirosh A et al.

Hormone Research in Paediatrics, 2018

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

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.

Stark MS et al.

Nature Genetics, 2011

22197930 (PubMed )
Supplement: NIHMS340429-supplement-1.pdf

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

Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.

Bimpaki EI et al.

European Journal of Endocrinology, 2009

Identification of ARHGEF17, DENND2D, FGFR3, and RB1 mutations in melanoma by inhibition of nonsense-mediated mRNA decay.

Bloethner S et al.

Genes, Chromosomes & Cancer, 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."