Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.G65V
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SMAD4

NM_005359.6:p.G65V

Associated Papers

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Structural determinants of Smad function in TGF-β signaling.

Macias MJ et al.

Trends in Biochemical Sciences, 2015

Phospho-control of TGF-beta superfamily signaling.

Wrighton KH et al.

Cell Research, 2009

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

Wrighton KH et al.

Cellular Signalling, 2008

Two somatic biallelic lesions within and near SMAD4 in a human breast cancer cell line.

Jakob J et al.

Genes, Chromosomes & Cancer, 2005

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Howe JR et al.

Journal of Medical Genetics, 2004

Regulation of the TGFbeta signalling pathway by ubiquitin-mediated degradation.

Izzi L et al.

Oncogene, 2004

Differential ubiquitination defines the functional status of the tumor suppressor Smad4.

Morén A et al.

The Journal of Biological Chemistry, 2003

An extended bipartite nuclear localization signal in Smad4 is required for its nuclear import and transcriptional activity.

Xiao Z et al.

Oncogene, 2003

Functional consequences of tumorigenic missense mutations in the amino-terminal domain of Smad4.

Morén A et al.

Oncogene, 2000

Functional mapping of the MH1 DNA-binding domain of DPC4/SMAD4.

Jones JB et al.

Nucleic Acids Research, 2000

Crystal structure of a Smad MH1 domain bound to DNA: insights on DNA binding in TGF-beta signaling.

Shi Y et al.

Cell, 1998

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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."