Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.L14Q
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P3H3

NM_014262.5:p.L14Q

Associated Papers

Reconstitution of the destruction complex defines roles of AXIN polymers and APC in β-catenin capture, phosphorylation, and ubiquitylation.

Ranes M et al.

Molecular Cell, 2021

Nuclear β-catenin localization and mutation of the CTNNB1 gene: a context-dependent association.

Kim G et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

β-Catenin in desmoid-type fibromatosis: deep insights into the role of T41A and S45F mutations on protein structure and gene expression.

Colombo C et al.

Molecular Oncology, 2017

28627792 (PubMed )
Supplement: MOL2-11-1495-s003.docx

Study of β-catenin and BRAF alterations in adamantinomatous and papillary craniopharyngiomas: mutation analysis with immunohistochemical correlation in 54 cases.

Malgulwar PB et al.

Journal of Neuro-oncology, 2017

β-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis.

Huss S et al.

Histopathology, 2013

Nuclear accumulation of mutated beta-catenin in hepatocellular carcinoma is associated with increased cell proliferation.

Nhieu JT et al.

The American Journal of Pathology, 1999

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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."