Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R155H
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SMARCB1

NM_003073.5:p.R155H

Associated Papers

Clinicopathologic and Molecular Features of Tubo-Ovarian Carcinosarcomas with an Emphasis on p53 Wild-Type, KRAS-Mutated Tumors.

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2026

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

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

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

Valencia AM et al.

Cell, 2019

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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."