Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.Y303*
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PHF6

NM_001015877.2:p.Y303*

Associated Papers

Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes.

Xu F et al.

Journal of Cellular and Molecular Medicine, 2022

Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes.

Follo MY et al.

Leukemia, 2019

Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.

Spinella JF et al.

Oncotarget, 2016

PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.

Todd MA et al.

Genes, 2015

PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.

Todd MA et al.

Journal of Proteome Research, 2012

Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.

Wang Q et al.

Haematologica, 2011

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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."