Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.R274W
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SHARPIN

NM_030974.4:p.R274W

Associated Papers

Recent Advances and Future Directions in Alzheimer's Disease Genetic Research.

Stancheva M et al.

International Journal of Molecular Sciences, 2025

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Involvement of heterologous ubiquitination including linear ubiquitination in Alzheimer's disease and amyotrophic lateral sclerosis.

Sato Y et al.

Frontiers in Molecular Biosciences, 2023

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Linear ubiquitination in immune and neurodegenerative diseases, and beyond.

Tokunaga F et al.

Biochemical Society Transactions, 2022

A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease.

Asanomi Y et al.

Journal of Human Genetics, 2022

A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.

Park JY et al.

Translational Psychiatry, 2021

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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."