Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R65H
Back to variants list

SPAST

NM_014946.4:p.R65H

Associated Papers

Spastin and alsin protein interactome analyses begin to reveal key canonical pathways and suggest novel druggable targets.

Helmold BR et al.

Neural Regeneration Research, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Multiple roles for the cytoskeleton in ALS.

Liu X et al.

Experimental Neurology, 2022

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion.

Tremolizzo L et al.

Case Reports in Neurological Medicine, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."