Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.E280del1
Back to variants list

SQSTM1

NM_003900.5:p.E280del1

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.

Leighton DJ et al.

Journal of Neurology, 2023

Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Rossi G et al.

Frontiers in Aging Neuroscience, 2022

Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.

Corcia P et al.

European Journal of Neurology, 2021

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Foster AD et al.

Neural Regeneration Research, 2020

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

van der Zee J et al.

Acta Neuropathologica, 2014

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."