Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R127G
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SMARCB1

NM_003073.5:p.R127G

Associated Papers

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

Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint.

Vries RG et al.

Genes & Development, 2005

Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.

Sévenet N et al.

Human Molecular Genetics, 1999

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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."