Varaico: Literature-Extracted Genetic Variants

Gene:ZNF687
Variant:p.S242I
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ZNF687

NM_020832.3:p.S242I

Associated Papers

Intrinsically Disordered Regions of Zinc Finger Protein 687 in Phase Separation: A Potentially Pathogenic Driver of Paget's Disease of Bone.

Wang J et al.

Acs Pharmacology & Translational Science, 2025

Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.

Huybrechts Y et al.

Calcified Tissue International, 2023

Update on the pathogenesis and genetics of Paget's disease of bone.

Gennari L et al.

Frontiers in Cell and Developmental Biology, 2022

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.

Divisato G et al.

Clinical Genetics, 2018

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.

Divisato G et al.

American Journal of Human Genetics, 2016

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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."