Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C499Y
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SMAD4

NM_005359.6:p.C499Y

Associated Papers

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.

Zhang T et al.

Biorxiv : the Preprint Server for Biology, 2025

40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4

Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.

Nakamura Y et al.

Nature Medicine, 2025

39284955 (PubMed )
Supplement: 41591_2024_3244_MOESM2_ESM.xlsx › Suppementary_Table_1

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Wood KA et al.

American Journal of Human Genetics, 2024

39116879 (PubMed )
Supplement: mmc2.xlsx › Table_S6

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

Investigating genomic, proteomic, and post-transcriptional regulation profiles in colorectal cancer: a comparative study between primary tumors and associated metastases.

Ham-Karim H et al.

Cancer Cell International, 2023

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

Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.

Kyrochristos ID et al.

Frontiers in Oncology, 2022

35402285 (PubMed )
Supplement: Table_1.xlsx › Patient_plots

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

Clinicopathological characteristics and genetic analysis of pulmonary carcinoid tumors: A single-center retrospective cohort study and literature review.

Li X et al.

Oncology Letters, 2020

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

Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Liu X et al.

Ebiomedicine, 2019

30857943 (PubMed )
Supplement: mmc3.xlsx › mutations_detected_in_cfDNA

Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Schumacher D et al.

Plos Genetics, 2019

30925167 (PubMed )
Supplement: pgen.1008076.s007.xlsx › S2_Table

Application of a multi-gene next-generation sequencing panel to a non-invasive oesophageal cell-sampling device to diagnose dysplastic Barrett's oesophagus.

Katz-Summercorn A et al.

The Journal of Pathology. Clinical Research, 2017

29085666 (PubMed )
Supplement: CJP2-3-258-s004.xlsx › Sheet1

Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.

Harvey NT et al.

Pathology, 2016

NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.

Chang PY et al.

Oncotarget, 2016

Driver gene mutations of non-small-cell lung cancer are rare in primary carcinoids of the lung: NGS study by ion Torrent.

Armengol G et al.

Lung, 2015

High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma.

Ku BM et al.

Journal of Translational Medicine, 2014

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt
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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."