Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.Y259C
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DDX41

NM_016222.4:p.Y259C

Associated Papers

Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.

Tiong IS et al.

Leukemia, 2026

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.

Elbaz Younes I et al.

Cancers, 2026

The dynamic alterations of DDX41 mutations in patients with myelodysplastic neoplasms treated with lenalidomide.

Liu J et al.

Leukemia & Lymphoma, 2025

Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies.

Kim B et al.

Journal of Clinical Medicine, 2025

Expanding the phenotypic spectrum of DDX41-related myeloid neoplasms: a case of mature plasmacytoid dendritic cell proliferation associated with acute myeloid leukemia with germline DDX41 mutation.

Li THS et al.

Leukemia & Lymphoma, 2025

Genomic variation in DDX41 identified through clinical sequencing.

Wells C et al.

British Journal of Haematology, 2025

Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.

Kusne Y et al.

British Journal of Haematology, 2025

Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding.

Kida J et al.

Current Opinion in Hematology, 2025

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.

Hendricks RM et al.

Leukemia, 2025

Molecular taxonomy of myelodysplastic syndromes and its clinical implications.

Bernard E et al.

Blood, 2024

38958467 (PubMed )
Supplement: BLOOD_BLD-2023-023727-mmc1.xlsx › Table_S6__DDX41_

Impaired binding affinity of YTHDC1 with METTL3/METTL14 results in R-loop accumulation in myelodysplastic neoplasms with DDX41 mutation.

Hwang WC et al.

Leukemia, 2024

Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.

Matsui H et al.

International Journal of Hematology, 2024

DDX41: exploring the roles of a versatile helicase.

Winstone L et al.

Biochemical Society Transactions, 2024

The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.

Maierhofer A et al.

Blood Advances, 2023

37874914 (PubMed )
Supplement: BLOODA_ADV-2023-011389-mmc1.xlsx › Table_S3

Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.

Badar T et al.

Haematologica, 2023

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc1.pdf

Causative germline variant p.Y259C of DDX41 recurrently identified in acute lymphoblastic leukaemia.

Huo L et al.

British Journal of Haematology, 2023

DDX41-associated susceptibility to myeloid neoplasms.

Makishima H et al.

Blood, 2023

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.

Makishima H et al.

Blood, 2023

Current Understanding of DDX41 Mutations in Myeloid Neoplasms.

Kim K et al.

Cancers, 2023

Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies.

Weinreb JT et al.

Febs Letters, 2022

Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.

Badar T et al.

Current Hematologic Malignancy Reports, 2022

DDX41: the poster child for familial AML.

Rio-Machin A et al.

Blood, 2022

Clinical implications and genetic features of clonal cytopenia of undetermined significance compared to lower-risk myelodysplastic syndrome.

Choi EJ et al.

British Journal of Haematology, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.

Shin WY et al.

Bmc Medical Genomics, 2022

Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges.

Tawana K et al.

British Journal of Haematology, 2022

Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.

Choi EJ et al.

Haematologica, 2022

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms.

Alkhateeb HB et al.

Blood Advances, 2022

Next-generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia.

Zhang Y et al.

Ejhaem, 2021

Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations.

Qu S et al.

British Journal of Haematology, 2021

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.

Wan Z et al.

Therapeutic Advances in Hematology, 2021

Next-Generation Sequencing of DDX41 in Myeloid Neoplasms Leads to Increased Detection of Germline Alterations.

Bannon SA et al.

Frontiers in Oncology, 2020

Myeloid neoplasms with germline DDX41 mutation.

Cheah JJC et al.

International Journal of Hematology, 2017

DDX41-related myeloid neoplasia.

Maciejewski JP et al.

Seminars in Hematology, 2017

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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."