Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V370D
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SMAD4

NM_005359.6:p.V370D

Associated Papers

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.

Despas L et al.

Journal of Medical Genetics, 2025

Innate immune dynamics in the context of multisite EGFR mutations in lung adenocarcinoma.

Peng Y et al.

Genes and Immunity, 2025

Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.

Nian R et al.

International Journal of Oncology, 2022

35796015 (PubMed )
Supplement: Supplementary_Data6.xlsx › Sheet1

Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-beta-like signaling pathway.

Ding L et al.

The Journal of Clinical Investigation, 2009

Regulation of large-scale chromatin unfolding by Smad4.

Yan J et al.

Biochemical and Biophysical Research Communications, 2004

Loss of Smad4 function in pancreatic tumors: C-terminal truncation leads to decreased stability.

Maurice D et al.

The Journal of Biological Chemistry, 2001

Formation of a stable heterodimer between Smad2 and Smad4.

Wu JW et al.

The Journal of Biological Chemistry, 2001

TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads.

Hata A et al.

Molecular Medicine Today, 1998

Evaluation of the FHIT gene in colorectal cancers.

Thiagalingam S et al.

Cancer Research, 1996

Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers.

Thiagalingam S et al.

Nature Genetics, 1996

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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."