Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.G334_D335del1
Back to variants list

SQSTM1

NM_003900.5:p.G334_D335del1

Associated Papers

Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing.

Ertorer ME et al.

Scientific Reports, 2025

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.

Cuyvers E et al.

Neurobiology of Aging, 2015

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."