Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.D198Y
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RUNX1

NM_001754.5:p.D198Y

Associated Papers

Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.

Guijarro F et al.

International Journal of Molecular Sciences, 2024

Mutational profiling of Chinese patients with thyroid cancer.

Du Y et al.

Frontiers in Endocrinology, 2023

37465126 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_2

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

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia.

Yang F et al.

Cancer Genetics, 2022

Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Liu B et al.

Cancer Medicine, 2022

35393784 (PubMed )
Supplement: CAM4-11-2767-s001.xlsx › Table_S2

Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia.

Wang F et al.

Nature Communications, 2021

33972549 (PubMed )
Supplement: 41467_2021_22874_MOESM4_ESM.xlsx › Supplementary_Data_3

Clonal Evolution after Allogeneic Hematopoietic Stem Cell Transplantation: The Case of Myelofibrosis.

Christopeit M et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2020

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Brown AL et al.

Blood Advances, 2020

Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Yi Z et al.

Npj Breast Cancer, 2020

33145402 (PubMed )
Supplement: 41523_2020_201_MOESM2_ESM.xlsx › Supplementary_Table_1

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s4.xlsx › TN_Mutations_Filter_2

Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.

Rothenberg-Thurley M et al.

Leukemia, 2018

29472724 (PubMed )
Supplement: 41375_2018_34_MOESM2_ESM.xlsx › Supplemental_Table_3

Frequency and Clinicopathologic Features of RUNX1 Mutations in Patients With Acute Myeloid Leukemia Not Otherwise Specified.

You E et al.

American Journal of Clinical Pathology, 2017

Role of RUNX1 in hematological malignancies.

Sood R et al.

Blood, 2017

Gene of the issue: RUNX1 mutations and inherited bleeding.

Morgan NV et al.

Platelets, 2017

RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.

Okada Y et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Recognizing familial myeloid leukemia in adults.

Nickels EM et al.

Therapeutic Advances in Hematology, 2013

Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.

Churpek JE et al.

Leukemia & Lymphoma, 2010

A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.

Buijs A et al.

Blood, 2001

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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."