Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E114*
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SPAST

NM_014946.4:p.E114*

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

FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia.

Kang HM et al.

Cell & Bioscience, 2022

35869491 (PubMed )
Supplement: 13578_2022_851_MOESM2_ESM.docx

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL et al.

Molecular Neurodegeneration, 2018

29980238 (PubMed )
Supplement: 13024_2018_269_MOESM1_ESM.xlsx › Table_S3

Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.

Leo L et al.

Human Molecular Genetics, 2017

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Svenson IK et al.

American Journal of Human Genetics, 2001

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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."