Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D351H
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SMAD4

NM_005359.6:p.D351H

Associated Papers

LINE-1 retrotransposition is a recurrent cause of MET exon 14 skipping in cancer.

Karlow JA et al.

Biorxiv : the Preprint Server for Biology, 2026

41757089 (PubMed )
Supplement: media-1.xlsx › Table_S1

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

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

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Decoding the functional impact of the cancer genome through protein-protein interactions.

Fu H et al.

Nature Reviews. Cancer, 2025

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

Chemoproteogenomic stratification of the missense variant cysteinome.

Desai H et al.

Nature Communications, 2024

Low PD-L1 expression, MAP2K2 alterations, and enriched HPV gene signatures characterize brain metastases in head and neck squamous cell carcinoma.

Dennis MJ et al.

Journal of Translational Medicine, 2024

39438862 (PubMed )
Supplement: 12967_2024_5761_MOESM2_ESM.xlsx › Full_Gene_List

Phenotypic characterisation of SMAD4 variant carriers.

Caillot C et al.

Journal of Medical Genetics, 2024

Multi-Omics Characterization of E3 Regulatory Patterns in Different Cancer Types.

Li Z et al.

International Journal of Molecular Sciences, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Diagnostic Utility of Next-Generation Sequencing in Circulating Free DNA and a Comparison With Matched Tissue in Gallbladder Carcinoma.

Mishra S et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2024

Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.

Walsh RJ et al.

Frontiers in Oncology, 2024

38812774 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet1

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Identification of an optimal mutant allele frequency to detect activating KRAS, NRAS, and BRAF mutations in a commercial cell-free DNA next-generation sequencing assay in colorectal and pancreatic adenocarcinomas.

Caughey BA et al.

Journal of Gastrointestinal Oncology, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Multi-omic stratification of the missense variant cysteinome.

Desai H et al.

Biorxiv : the Preprint Server for Biology, 2023

RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Jbara A et al.

Nature, 2023

36949200 (PubMed )
Supplement: NIHMS1897967-supplement-1897967_Supp_table_1.xlsx › clin_data_PDA_Patients

PRMT5 methylating SMAD4 activates TGF-β signaling and promotes colorectal cancer metastasis.

Liu A et al.

Oncogene, 2023

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

Modified Taq DNA Polymerase for Allele-Specific Ultra-Sensitive Detection of Genetic Variants.

Lim Y et al.

The Journal of Molecular Diagnostics : Jmd, 2022

Systematic discovery of mutation-directed neo-protein-protein interactions in cancer.

Mo X et al.

Cell, 2022

Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Thompson JC et al.

Jto Clinical and Research Reports, 2022

35392653 (PubMed )
Supplement: mmc3.xlsx › All_data

VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.

Leoni G et al.

Vaccines, 2021

34452005 (PubMed )
Supplement: vaccines-09-00880-s001.zip › SupplementaryTable1.xlsx › MC38

Establishment and characterization of a new human colon cancer cell line, PUMC-CRC1.

Bian X et al.

Scientific Reports, 2021

Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.

Gori I et al.

Elife, 2021

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S2.2_Overall_SNV_small_indels

Comparison of the molecular and cellular phenotypes of common mouse syngeneic models with human tumors.

Zhong W et al.

Bmc Genomics, 2020

31898484 (PubMed )
Supplement: 12864_2019_6344_MOESM3_ESM.xls › WES.mut

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Roles of Smads Family and Alternative Splicing Variants of Smad4 in Different Cancers.

Ullah I et al.

Journal of Cancer, 2018

Genetic alterations in Japanese extrahepatic biliary tract cancer.

Noguchi R et al.

Oncology Letters, 2017

Construction of a multiplex mutation hot spot PCR panel: the first step towards colorectal cancer genotyping on the GS Junior platform.

Péterfia B et al.

Journal of Cancer, 2017

The ratio of STAT1 to STAT3 expression is a determinant of colorectal cancer growth.

Nivarthi H et al.

Oncotarget, 2016

27191495 (PubMed )
Supplement: oncotarget-07-51096-s001.pdf

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms.

Mackenzie R et al.

Bmc Cancer, 2015

25986173 (PubMed )
Supplement: 12885_2015_1421_MOESM1_ESM.xls › Sheet1

Profiling of actionable gene alterations in ovarian cancer by targeted deep sequencing.

Takenaka M et al.

International Journal of Oncology, 2015

Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Tone AA et al.

Bmc Cancer, 2014

25523272 (PubMed )
Supplement: 12885_2014_5198_MOESM14_ESM.xlsx › Sheet1__2_
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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."