Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P102L
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SMAD4

NM_005359.6:p.P102L

Associated Papers

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations

Consequences of Mutations and Abnormal Expression of SMAD4 in Tumors and T Cells.

Wan R et al.

Oncotargets and Therapy, 2021

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Mäki-Nevala S et al.

Ebiomedicine, 2019

To (TGF)beta or not to (TGF)beta: fine-tuning of Smad signaling via post-translational modifications.

Wrighton KH et al.

Cellular Signalling, 2008

Acute myelogenous leukemia-derived SMAD4 mutations target the protein to ubiquitin-proteasome degradation.

Yang L et al.

Human Mutation, 2006

TGFbeta/BMP inhibits the bone marrow transformation capability of Hoxa9 by repressing its DNA-binding ability.

Wang N et al.

The Embo Journal, 2006

Regulation of large-scale chromatin unfolding by Smad4.

Yan J et al.

Biochemical and Biophysical Research Communications, 2004

Tumor-derived C-terminal mutations of Smad4 with decreased DNA binding activity and enhanced intramolecular interaction.

Kuang C et al.

Oncogene, 2004

Mutations of the Smad4 gene in acute myelogeneous leukemia and their functional implications in leukemogenesis.

Imai Y et al.

Oncogene, 2001

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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."