Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.D227N
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PRKAR1A

NM_002734.5:p.D227N

Associated Papers

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.

Elli FM et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

Muhn F et al.

Clinical Genetics, 2013

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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."