Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R307P
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KIF1A

NM_001244008.2:p.R307P

Associated Papers

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Lin Q et al.

European Journal of Human Genetics : Ejhg, 2025

Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.

Rao L et al.

Biomolecules, 2025

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.

Ganesan S et al.

Biorxiv : the Preprint Server for Biology, 2025

Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.

Rao L et al.

Biorxiv : the Preprint Server for Biology, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG30

Positive charge in the K-loop of the kinesin-3 motor KIF1A regulates superprocessivity by enhancing microtubule affinity in the one-head-bound state.

Zaniewski TM et al.

The Journal of Biological Chemistry, 2023

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Maharjan DT et al.

Biomolecules, 2022

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Boyle L et al.

Hgg Advances, 2021

33880452 (PubMed )
Supplement: mmc2.xlsx › Table_S4

KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.

Nemani T et al.

Journal of the Peripheral Nervous System : Jpns, 2020

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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."