Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q311*
Back to variants list

SMAD4

NM_005359.6:p.Q311*

Associated Papers

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

Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2025

40867048 (PubMed )
Supplement: gkaf812_supplemental_files.zip › Supplementary_Table_S9_List_of__mutations_Cell_lines.xlsx › biogenezis_genes

A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.

Wang P et al.

Genome Biology, 2025

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

HDAC and MEK inhibition synergistically suppresses HOXC6 and enhances PD-1 blockade efficacy in BRAFV600E-mutant microsatellite stable colorectal cancer.

Sun Z et al.

Journal for Immunotherapy of Cancer, 2025

39800382 (PubMed )
Supplement: jitc-13-1-s001.pdf

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

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

Genome-wide CRISPR Screen Reveals RAB10 as a Synthetic Lethal Gene in Colorectal and Pancreatic Cancers Carrying SMAD4 Loss.

Erasimus H et al.

Cancer Research Communications, 2023

NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Jung K et al.

Scientific Reports, 2022

36463295 (PubMed )
Supplement: 41598_2022_24732_MOESM1_ESM.xlsx › S4._Overall_mutation_profile

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

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

Bian X et al.

Scientific Reports, 2021

Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Garcia J et al.

Scientific Reports, 2021

34031447 (PubMed )
Supplement: 41598_2021_89592_MOESM1_ESM.xlsx › Supplementary_Table_S2

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS1

Early circulating tumour DNA kinetics measured by ultra-deep next-generation sequencing during radical radiotherapy for non-small cell lung cancer: a feasibility study.

Walls GM et al.

Radiation Oncology (london, England), 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

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

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

CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Manic G et al.

Gut, 2018

28389531 (PubMed )
Supplement: gutjnl-2016-312623supp002.pdf

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

Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations.

Choi SH et al.

Genomics & Informatics, 2017

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-s005.xlsx › Sheet1

Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms.

Yu J et al.

Gut, 2017

Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing.

Jauhri M et al.

Medical Oncology (northwood, London, England), 2016

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

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 next generation sequencing of parotid gland cancer uncovers genetic heterogeneity.

Grünewald I et al.

Oncotarget, 2015

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Retrospective review using targeted deep sequencing reveals mutational differences between gastroesophageal junction and gastric carcinomas.

Li-Chang HH et al.

Bmc Cancer, 2015

25656989 (PubMed )
Supplement: 12885_2015_1021_MOESM6_ESM.xlsx › Sheet1

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_

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Reinhold WC et al.

Plos One, 2014

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

CEA/CD3 bispecific antibody MEDI-565/AMG 211 activation of T cells and subsequent killing of human tumors is independent of mutations commonly found in colorectal adenocarcinomas.

Oberst MD et al.

Mabs, 2014

25484061 (PubMed )
Supplement: kmab-06-06-975660-s001.zip › Supplementary_Figure_2.pdf

SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

Fleming NI et al.

Cancer Research, 2013

23139211 (PubMed )
Supplement: 00085472can122706-sup-t1-8_xls_117k.xls › Table_S4

The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.

Johnson JK et al.

Bmc Cancer, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."