Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.I411M
Back to variants list

ATP13A2

NM_022089.4:p.I411M

Associated Papers

Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.

Khosravi S et al.

Movement Disorders Clinical Practice, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG78

Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.

Chen X et al.

Cell Discovery, 2021

34728622 (PubMed )
Supplement: 41421_2021_334_MOESM1_ESM.pdf

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Spataro R et al.

Human Genomics, 2019

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."