Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.A242T
Back to variants list

UBQLN2

NM_013444.4:p.A242T

Associated Papers

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

Watanabe K et al.

Journal of Human Genetics, 2025

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Acosta-Uribe J et al.

Genome Medicine, 2022

35260199 (PubMed )
Supplement: 13073_2022_1035_MOESM12_ESM.xlsx › Additional_file_10__Table_S10
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."