Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.P188L
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SMARCB1

NM_003073.5:p.P188L

Associated Papers

Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.

Pei J et al.

Febs Open Bio, 2024

37964489 (PubMed )
Supplement: FEB4-14-112-s002.xlsx › AlphaFold_models

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_MOESM1_ESM.pdf

Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling.

Valencia AM et al.

Cell, 2019

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Chen F et al.

Nature Communications, 2017

28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data

Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.

Chen YB et al.

Nature Communications, 2016

27713405 (PubMed )
Supplement: ncomms13131-s3.xlsx › All_mutations

Mutational dichotomy in desmoplastic malignant melanoma corroborated by multigene panel analysis.

Jahn SW et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015

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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."