Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.G168Splc
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PRKAR1A

NM_002734.5:p.G168Splc

Associated Papers

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S8

Carney complex predisposes to breast cancer: prospective study of 50 women.

Vaduva P et al.

European Journal of Endocrinology, 2024

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

Acromegaly in Carney complex.

Cuny T et al.

Pituitary, 2019

Failure to Thrive in the Context of Carney Complex.

Tirosh A et al.

Hormone Research in Paediatrics, 2018

Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD).

Vezzosi D et al.

The Journal of Clinical Endocrinology and Metabolism, 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

A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.

Gennari M et al.

Clinical Endocrinology, 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."