Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.K363*
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SMARCB1

NM_003073.5:p.K363*

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

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

SMARCB1 regulates the hypoxic stress response in sickle cell trait.

Soeung M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E).

Park J et al.

Blood, 2017

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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."