Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP2
Variant:p.R415P
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SH3BP2

NM_001122681.2:p.R415P

Associated Papers

Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations.

Argyris PP et al.

Head and Neck Pathology, 2018

Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?

Uyar B et al.

Molecular Biosystems, 2014

25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s002.zip › Supplementary_file_9.xlsx › A__OMIM_dataset

Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.

Sangu N et al.

Congenital Anomalies, 2013

Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease.

Guettler S et al.

Cell, 2011

[Gene mutation and expression of SH-3BP-2 in cherubism].

Li YW et al.

Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2009

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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."