Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.S208_E209delFs
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SMARCE1

NM_003079.5:p.S208_E209delFs

Associated Papers

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.

Sievers P et al.

Acta Neuropathologica, 2021

33319313 (PubMed )
Supplement: 401_2020_2247_MOESM2_ESM.pdf

Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis.

Tauziede-Espariat A et al.

Brain Pathology (zurich, Switzerland), 2018

SMARCE1 mutation screening in classification of clear cell meningiomas.

Smith MJ et al.

Histopathology, 2017

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.

Smith MJ et al.

The Journal of Pathology, 2014

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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."