Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D493H
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SMAD4

NM_005359.6:p.D493H

Associated Papers

Landscape of cancer associated EpCAM mutations: molecular modeling, predictive insights and impact on patient survival.

Dhotare PS et al.

Bmc Cancer, 2025

40597801 (PubMed )
Supplement: 12885_2025_14455_MOESM1_ESM.zip › Supplementary_tables.pdf

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.

Tarawneh TS et al.

Cancers, 2022

36139590 (PubMed )
Supplement: cancers-14-04430-s001.zip › Tarawneh_et_al_Supplementary_Table_S5.xlsx › Alterations

A RAS-Independent Biomarker Panel to Reliably Predict Response to MEK Inhibition in Colorectal Cancer.

Pfohl U et al.

Cancers, 2022

35805024 (PubMed )
Supplement: cancers-14-03252-s001.zip › Supplementary_Files › Table_S2.xlsx › PDO-models

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

Tumour-Derived Cell Lines and Their Potential for Therapy Prediction in Patients with Metastatic Colorectal Cancer.

Wagner S et al.

Cancers, 2021

34572946 (PubMed )
Supplement: cancers-13-04717-s001.zip › cancers-1355846-supplementary.xlsx › Table_S3_SNVs

A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.

Lowder CY et al.

Surgical Oncology, 2020

Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.

Aggarwal C et al.

Jama Oncology, 2019

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.

Hou H et al.

Oncotarget, 2017

29285234 (PubMed )
Supplement: oncotarget-08-105072-s002.xlsx › Data

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

Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells.

Prokova V et al.

Biochemistry, 2007

Regulation of large-scale chromatin unfolding by Smad4.

Yan J et al.

Biochemical and Biophysical Research Communications, 2004

Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors.

Iacobuzio-Donahue CA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2004

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

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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."