Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.P48S
Back to variants list

SMARCB1

NM_003073.5:p.P48S

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

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas.

Christiaans I et al.

Journal of Medical Genetics, 2011

RhoA-dependent regulation of cell migration by the tumor suppressor hSNF5/INI1.

Caramel J et al.

Cancer Research, 2008

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."