Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1B
Variant:p.R211K
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PRKAR1B

NM_001164760.2:p.R211K

Associated Papers

Allosteric modulation of protein kinase A in individuals affected by NLPD-PKA, a neurodegenerative disease in which the PRKAR1B L50R variant is expressed.

Benjamin-Zukerman T et al.

The Febs Journal, 2025

Aberrant phase separation of two PKA RIβ neurological disorder mutants leads to mechanistically distinct signaling deficits.

Pool EH et al.

Cell Reports, 2025

A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.

Benjamin-Zukerman T et al.

Brain : a Journal of Neurology, 2024

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