Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R373Splc
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SMARCB1

NM_003073.5:p.R373Splc

Associated Papers

Identification of novel germline and somatic mutations associated with hepatocellular carcinoma by next-generation sequencing.

Laaribi AB et al.

Frontiers in Pharmacology, 2025

Next-generation sequencing as a valuable tool for mutational spectrum in advanced-stage NSCLC patients.

Iurca I et al.

Medicine and Pharmacy Reports, 2024

A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.

Brugmans AK et al.

Cellular and Molecular Neurobiology, 2023

37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM2_ESM.xlsx › COSMIC_Cancer_all_mutations

Cerebellar liponeurocytoma: clinical, histopathological and molecular features of a series of three cases, including one recurrent tumor.

Broggi G et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2022

Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Pop-Bica C et al.

Journal of Personalized Medicine, 2022

35330454 (PubMed )
Supplement: jpm-12-00453-s001.zip › jpm-1596007-supplementary.xlsx › Blood

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s005.xlsx › SDC5

Comment on: SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM.

Smith MJ et al.

Journal of Neuropathology and Experimental Neurology, 2021

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

Connecting the dots between different networks: miRNAs associated with bladder cancer risk and progression.

Braicu C et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

31665050 (PubMed )
Supplement: 13046_2019_1406_MOESM9_ESM.xlsx › NGS_all_data

Clinical Validation of Discordant Trunk Driver Mutations in Paired Primary and Metastatic Lung Cancer Specimens.

Tseng LH et al.

American Journal of Clinical Pathology, 2019

Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing.

Butt E et al.

F1000research, 2019

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Castellanos E et al.

Scientific Reports, 2017

28051113 (PubMed )
Supplement: srep39348-s1.pdf

The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.

Zhang R et al.

Oncotarget, 2016

Mutational analysis of single circulating tumor cells by next generation sequencing in metastatic breast cancer.

De Luca F et al.

Oncotarget, 2016

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.

Kaisaki PJ et al.

Plos One, 2016

27626278 (PubMed )
Supplement: pone.0162809.s003.docx

Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: clonal evolution unchecked.

Niravath P et al.

Experimental Hematology & Oncology, 2015

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.

Rousseau G et al.

Bmc Neurology, 2011

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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."