Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R217Q
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PRRT2

NM_145239.3:p.R217Q

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

Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Sutherland HG et al.

Cells, 2020

Galloping tongue syndrome in a PRRT2 mutation carrier.

Vilas D et al.

Neurology. Genetics, 2019

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Okumura A et al.

Seizure, 2019

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Huguet G et al.

Plos One, 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."