Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.G287V
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PHF6

NM_001015877.2:p.G287V

Associated Papers

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

Leukemia mutated proteins PHF6 and PHIP form a chromatin complex that represses acute myeloid leukemia stemness.

Pawar AS et al.

Genes & Development, 2025

Leukemia-mutated proteins PHF6 and PHIP form a chromatin complex that represses acute myeloid leukemia stemness.

Pawar AS et al.

Biorxiv : the Preprint Server for Biology, 2024

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data

Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Ferraro F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34845035 (PubMed )
Supplement: pnas.2116427118.sd02.xlsx › mutations.2021.02.24

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.

Wu D et al.

Haematologica, 2020

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.

Ding L et al.

Nature, 2012

22237025 (PubMed )
Supplement: NIHMS341298-supplement-1.pdf
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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."