Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.R906C
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SMARCA4

NM_003072.5:p.R906C

Associated Papers

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet1_SMARCA2_4_pathogenecity

Germline pathogenic SMARCA4 variants in neuroblastoma.

Witkowski L et al.

Journal of Medical Genetics, 2023

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4

Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Fernando TM et al.

Nature Communications, 2020

33144586 (PubMed )
Supplement: 41467_2020_19402_MOESM4_ESM.xlsx › Sheet1

Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma.

Bellini A et al.

International Journal of Cancer, 2019

31018240 (PubMed )
Supplement: IJC-145-2781-s002.xlsx › Table_S3
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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."