Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.K83E
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RUNX1

NM_001001890.3:p.K83E

Associated Papers

Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

Yu K et al.

Blood Advances, 2024

38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Exome_Seq

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

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Homan CC et al.

Haematologica, 2021

34233450 (PubMed )
Supplement: 2021_278762_HOMAN_TABLE1_SUPPL.xlsx › Germline_RUNX1_registry

Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies.

Decker M et al.

Leukemia, 2021

RUNX1 mutation and elevated FLT3 gene expression cooperates to induce inferior prognosis in cytogenetically normal acute myeloid leukemia patients.

Rehman A et al.

Saudi Journal of Biological Sciences, 2021

Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

Li Y et al.

The Journal of Clinical Investigation, 2021

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

Brown AL et al.

Blood Advances, 2020

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.

Luo X et al.

Blood Advances, 2019

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

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 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.

Koh CP et al.

Leukemia, 2013

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

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