Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.E758K
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KIF5A

NM_004984.4:p.E758K

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

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

Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.

Zhao B et al.

Molecular Neurobiology, 2023

37171577 (PubMed )
Supplement: 12035_2023_3380_MOESM1_ESM.xlsx › Supplementary_table_4

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Computational study of the motor neuron protein KIF5A to identify nsSNPs, bioactive compounds, and its key regulators.

Kumar R et al.

Frontiers in Genetics, 2023

Genotype-phenotype correlations of KIF5A stalk domain variants.

de Boer EMJ et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.

Tripolszki K et al.

Frontiers in Genetics, 2019

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

27217339 (PubMed )
Supplement: aww111_supplementary_data.zip › brain-2015-01890-File008.pdf
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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."