Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.D779N
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SMARCA4

NM_003072.5:p.D779N

Associated Papers

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

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet1_SMARCA2_4_pathogenecity

Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics.

Johann PD et al.

Acta Neuropathologica, 2023

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.

Holdhof D et al.

Acta Neuropathologica, 2021

Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Padovan-Merhar OM et al.

Plos Genetics, 2016

27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1

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

Hasselblatt M et al.

Acta Neuropathologica, 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."