Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.Q348Q
Back to variants list

SMARCB1

NM_003073.5:p.Q348Q

Associated Papers

High-throughput screening of human genetic variants by pooled prime editing.

Herger M et al.

Cell Genomics, 2025

40120586 (PubMed )
Supplement: mmc5.xlsx › Table_supp_SMARCB1-VariantData

Human medulloblastomas lack point mutations and homozygous deletions of the hSNF5/INI1 tumour suppressor gene.

Kraus JA et al.

Neuropathology and Applied Neurobiology, 2002

Indications for a tumor suppressor gene at 22q11 involved in the pathogenesis of ependymal tumors and distinct from hSNF5/INI1.

Kraus JA et al.

Acta Neuropathologica, 2001

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."