Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R145Q
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PRRT2

NM_145239.3:p.R145Q

Associated Papers

Computational insights into PKCθ non-synonymous SNPs: from structural changes to functional implications.

Hafeez A et al.

Journal of Biomolecular Structure & Dynamics, 2025

40847819 (PubMed )
Supplement: supplement_1.zip › supplementary_file_S_table_S3.xlsx › Cosmic_nsSNPs

Umbrella Sampling Simulations Measure Switch Peptide Binding and Hydrophobic Patch Opening Free Energies in Cardiac Troponin.

Cool AM et al.

Journal of Chemical Information and Modeling, 2022

Computational Methods Elucidate Consequences of Mutations and Post-translational Modifications on Troponin I Effective Concentration to Troponin C.

Cool AM et al.

The Journal of Physical Chemistry. B, 2021

Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.

Gomes AV et al.

Molecular and Cellular Biochemistry, 2004

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

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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."