Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.H329R
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PHF6

NM_001015877.2:p.H329R

Associated Papers

Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center.

Kebede AM et al.

Frontiers in Oncology, 2024

39687881 (PubMed )
Supplement: Table2.xlsx › Sheet1

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc4.xlsx › Supp_Table_3__final

PHF6 Mutations in Hematologic Malignancies.

Kurzer JH et al.

Frontiers in Oncology, 2021

Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Tarlock K et al.

Oncotarget, 2018

29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics

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

Todd MA et al.

Genes, 2015

Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.

Liu Z et al.

The Journal of Biological Chemistry, 2014

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

PHF6 mutations in T-cell acute lymphoblastic leukemia.

Van Vlierberghe P et al.

Nature Genetics, 2010

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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."