Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.N61K
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GPR50

NM_004224.3:p.N61K

Associated Papers

Structure and Dynamics of the Misfolding Intermediate in the Pathogenic T183A Prion Protein Mutant.

Biancaniello C et al.

Journal of Chemical Theory and Computation, 2025

41045215 (PubMed )
Supplement: ct5c00742_si_001.pdf

Backbone NMR assignments of the C-terminal domain of the human prion protein and its disease-associated T183A variant.

Sanz-Hernández M et al.

Biomolecular Nmr Assignments, 2021

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

Huang Y et al.

Annals of Translational Medicine, 2021

Dynamic diagnosis of familial prion diseases supports the β2-α2 loop as a universal interference target.

Meli M et al.

Plos One, 2011

[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

Qi YH et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010

The conversion of helix H2 to beta-sheet is accelerated in the monomer and dimer of the prion protein upon T183A mutation.

Chebaro Y et al.

The Journal of Physical Chemistry. B, 2009

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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."