Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.H322R
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REST

NM_005612.5:p.H322R

Associated Papers

High resolution clonal architecture of hypomutated Wilms tumours.

Lee-Six H et al.

Nature Communications, 2025

40442086 (PubMed )
Supplement: 41467_2025_59854_MOESM4_ESM.xlsx › fig3

REST missense mutations reveal disrupted Re1 motif binding and co-repressor interactions in uterine fibroids.

Sriram S et al.

Frontiers in Bioinformatics, 2025

41601477 (PubMed )
Supplement: Table2.xlsx › REST_SNP_Analysis_Scores

The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss.

Nakano Y et al.

European Journal of Human Genetics : Ejhg, 2023

Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Mahamdallie SS et al.

Nature Genetics, 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."