Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.W79R
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RUNX1

NM_001001890.3:p.W79R

Associated Papers

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM8_ESM.xlsx › Sheet1

Interface-guided phenotyping of coding variants in the transcription factor RUNX1 with SEUSS.

Ozturk K et al.

Biorxiv : the Preprint Server for Biology, 2023

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

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

Decker M et al.

Leukemia, 2021

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 hematopoiesis and risk of acute myeloid leukemia.

Young AL et al.

Haematologica, 2019

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

Luo X et al.

Blood Advances, 2019

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s012.xlsx › Sheet_1

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.

Tsai SC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia.

Grossmann V et al.

Haematologica, 2011

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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."