Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.A268T
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KIF5A

NM_004984.4:p.A268T

Associated Papers

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.

Dulski J et al.

Hgg Advances, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG10

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Cozzi M et al.

Cell Death & Disease, 2024

A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.

Carrington G et al.

The Journal of Biological Chemistry, 2024

38309508 (PubMed )
Supplement: mmc1.pdf

Genotype-phenotype correlations of KIF5A stalk domain variants.

de Boer EMJ et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.

de Fuenmayor-Fernández de la Hoz CP et al.

Brain : a Journal of Neurology, 2019

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.

Brenner D et al.

Brain : a Journal of Neurology, 2019

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Jia X et al.

Annals of Neurology, 2018

29908077 (PubMed )
Supplement: ANA-84-51-s004.pdf
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