Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN2
Variant:p.G481V
Back to variants list

UBQLN2

NM_013444.4:p.G481V

Associated Papers

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

Watanabe K et al.

Journal of Human Genetics, 2025

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

Ubiquilin Networking in Cancers.

Jantrapirom S et al.

Cancers, 2020

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."