Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G370R
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SPAST

NM_014946.4:p.G370R

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

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

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

Fogli A et al.

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

Fogli A et al.

Human Genetics, 2009

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

Depienne C et al.

Journal of Medical Genetics, 2006

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

Errico A et al.

Human Molecular Genetics, 2002

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Fonknechten N et al.

Human Molecular Genetics, 2000

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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."