Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1B
Variant:p.R115K
Back to variants list

PRKAR1B

NM_001164760.2:p.R115K

Associated Papers

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.

Burkart S et al.

Clinical Genetics, 2025

High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.

Bloyd M et al.

Frontiers in Endocrinology, 2023

The PRKAR1B p.R115K Variant is Associated with Lipoprotein Profile in African American Youth with Metabolic Challenges.

Bloyd M et al.

Journal of the Endocrine Society, 2021

PKA Cβ: a forgotten catalytic subunit of cAMP-dependent protein kinase opens new windows for PKA signaling and disease pathologies.

Taylor SS et al.

The Biochemical Journal, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."