Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.V164fs
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PRKAR1A

NM_002734.5:p.V164fs

Associated Papers

The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations.

Tatsi C et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Case Report: Cardiac myxomas and Carney complex: a case of recurrent embolic strokes and intracranial tumor growth.

Kuhn AW et al.

Frontiers in Oncology, 2025

From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex.

Di Gioia L et al.

Endocrine, 2024

Identification of a PRKAR1A mutation (c.491_492delTG) in familial cardiac myxoma: A case report.

Ma S et al.

Medicine, 2019

Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas.

Geyer FC et al.

Nature Communications, 2018

29739933 (PubMed )
Supplement: 41467_2018_4128_MOESM5_ESM.xlsx › Supplementary_Data_3

Corticotropinoma as a Component of Carney Complex.

Hernández-Ramírez LC et al.

Journal of the Endocrine Society, 2017

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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."