Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.L205R
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POMC

NM_000939.4:p.L205R

Associated Papers

Classification of Cushing's syndrome PKAc mutants based upon their ability to bind PKI.

Omar MH et al.

The Biochemical Journal, 2023

Kinetics and inhibition studies of the L205R mutant of cAMP-dependent protein kinase involved in Cushing's syndrome.

Luzi NM et al.

Febs Open Bio, 2018

Cushing's syndrome mutant PKAL205R exhibits altered substrate specificity.

Lubner JM et al.

Febs Letters, 2017

Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome.

Cao Y et al.

Science (new York, N.y.), 2014

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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."