Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.S436F
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SPAST

NM_014946.4:p.S436F

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Park J et al.

Molecular Genetics & Genomic Medicine, 2019

An allosteric network in spastin couples multiple activities required for microtubule severing.

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

Chelban V et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

28572275 (PubMed )
Supplement: jnnp-2017-315796supp001.pdf

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono C et al.

Human Mutation, 2005

Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).

McDermott CJ et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2003

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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."