Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.C167Splc
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SMARCB1

NM_003073.5:p.C167Splc

Associated Papers

Pembrolizumab efficacy in a tumor mutation burden-high glioblastoma patient: A case study and implications for precision oncology.

Nishiyama A et al.

Cancer Science, 2025

Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.

Nakano Y et al.

European Journal of Human Genetics : Ejhg, 2024

Unveiling the signaling network of FLT3-ITD AML improves drug sensitivity prediction.

Latini S et al.

Elife, 2024

38564252 (PubMed )
Supplement: elife-90532-supp9.xlsx › OncoKB_mutations

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

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.

Holsten T et al.

European Journal of Human Genetics : Ejhg, 2018

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

Ammerlaan AC et al.

British Journal of Cancer, 2008

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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."