Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.E247K
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DDX41

NM_016222.4:p.E247K

Associated Papers

DDX41: exploring the roles of a versatile helicase.

Winstone L et al.

Biochemical Society Transactions, 2024

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

Makishima H et al.

Blood, 2023

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

Shin WY et al.

Bmc Medical Genomics, 2022

DDX41: a multifunctional DEAD-box protein involved in pre-mRNA splicing and innate immunity.

Andreou AZ

Biological Chemistry, 2021

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Sahoo SS et al.

Best Practice & Research. Clinical Haematology, 2020

Insights into the Involvement of Spliceosomal Mutations in Myelodysplastic Disorders from Analysis of SACY-1/DDX41 in Caenorhabditis elegans.

Tsukamoto T et al.

Genetics, 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

Structural and functional analyses of human DDX41 DEAD domain.

Jiang Y et al.

Protein & Cell, 2017

Structural and Functional Analysis of DDX41: a bispecific immune receptor for DNA and cyclic dinucleotide.

Omura H et al.

Scientific Reports, 2016

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Lewinsohn M et al.

Blood, 2016

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.

Polprasert C et al.

Cancer Cell, 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."