Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.R42*
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PRKAR1A

NM_002734.5:p.R42*

Associated Papers

Detection of PRKAR1A gene mutations in sporadic cardiac myxomas: a study of 24 cases.

Bekers E et al.

Virchows Archiv : an International Journal of Pathology, 2025

PRKC Fusion Melanocytic Tumors, a Subgroup of Melanocytic Tumors More Closely Aligned to Blue Nevi Than to PRKAR1A-inactivated Pigmented Epithelioid Melanocytomas.

Patel P et al.

The American Journal of Surgical Pathology, 2024

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

Vaduva P et al.

European Journal of Endocrinology, 2024

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.

Williams EA et al.

Neuro-oncology, 2023

37436963 (PubMed )
Supplement: noad121_suppl_supplementary_tables.xlsx › Table_S6

Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability.

Colombo C et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

Recurrent somatic mutations of PRKAR1A in isolated cardiac myxoma.

He J et al.

Oncotarget, 2017

Carney complex: an update.

Correa R et al.

European Journal of Endocrinology, 2015

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

Edgetic perturbation models of human inherited disorders.

Zhong Q et al.

Molecular Systems Biology, 2009

19888216 (PubMed )
Supplement: msb200980-s1.pdf

Heterogeneity of skin manifestations in patients with Carney complex.

Mateus C et al.

Journal of the American Academy of Dermatology, 2008

PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes.

Robinson-White AJ et al.

Cancer Research, 2006

17079485 (PubMed )
Supplement: 00085472can062200-sup-supplementary_table_1.pdf

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

Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas.

Zimpfer A et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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