Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.G219V
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PANK2

NM_001386393.1:p.G219V

Associated Papers

Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review.

Tao Y et al.

Frontiers in Neurology, 2023

37188304 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.

Li WB et al.

Frontiers in Aging Neuroscience, 2022

35462688 (PubMed )
Supplement: Table_4.XLSX › Sheet1

Overexpression of Human Mutant PANK2 Proteins Affects Development and Motor Behavior of Zebrafish Embryos.

Khatri D et al.

Neuromolecular Medicine, 2019

Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.

Sami N et al.

Molecular Neurobiology, 2017

Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration.

Morales-Briceño H et al.

Clinical Genetics, 2015

Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder.

Hong BS et al.

The Journal of Biological Chemistry, 2007

Prokaryotic type II and type III pantothenate kinases: The same monomer fold creates dimers with distinct catalytic properties.

Hong BS et al.

Structure (london, England : 1993), 2006

Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.

Zhang YM et al.

The Journal of Biological Chemistry, 2006

Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.

Kotzbauer PT et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

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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."