Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.L145fs
Back to variants list

SOD1

NM_000454.5:p.L145fs

Associated Papers

A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.

Nakamura R et al.

Communications Biology, 2025

41350806 (PubMed )
Supplement: 42003_2025_9168_MOESM1_ESM.pdf

Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.

Berdyński M et al.

Human Mutation, 2025

40551967 (PubMed )
Supplement: 9792233.f1.docx

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Huang M et al.

Translational Neurodegeneration, 2024

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Guissart C et al.

Scientific Reports, 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."