Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.W1178*
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SMARCA4

NM_003072.5:p.W1178*

Associated Papers

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_17

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.

van Engelen N et al.

Pediatric Blood & Cancer, 2025

40580017 (PubMed )
Supplement: supplement_1.docx

A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.

Zhou Y et al.

Discover Oncology, 2025

40768092 (PubMed )
Supplement: 12672_2025_3361_MOESM1_ESM.xlsx › somatic

Systematic characterization of BAF mutations provides insights into intracomplex synthetic lethalities in human cancers.

Schick S et al.

Nature Genetics, 2019

31427792 (PubMed )
Supplement: EMS83287-supplement-Supplementary_Table_1.xlsx › cell_lines

An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Lu B et al.

Journal of Cancer, 2019

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis.

Hasselblatt M et al.

Acta Neuropathologica, 2014

Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.

Witkowski L et al.

The Journal of Pathology, 2013

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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."