Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.R107H
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RUNX1

NM_001754.5:p.R107H

Associated Papers

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Ernst MPT et al.

Hemasphere, 2025

39822584 (PubMed )
Supplement: HEM3-9-e70057-s001.xlsx › Sheet1

Targeting SRSF2 mutations in leukemia with RKI-1447: A strategy to impair cellular division and nuclear structure.

Su M et al.

Iscience, 2024

38558935 (PubMed )
Supplement: mmc9.xlsx › Molecular_data

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis-mediated neoplastic fibrocyte generation in myeloproliferative neoplasms.

Shi Z et al.

Haematologica, 2023

36005555 (PubMed )
Supplement: 2021_280320_SHI_SUPPL.pdf

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

Clinical and genomic characterization of patients diagnosed with the provisional entity acute myeloid leukemia with BCR-ABL1, a Swedish population-based study.

Orsmark-Pietras C et al.

Genes, Chromosomes & Cancer, 2021

Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies.

Papuc SM et al.

Genes, 2021

34070898 (PubMed )
Supplement: genes-12-00846-s001.zip › genes-1225535-supplementary.xlsx › Sheet1

Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.

Morita K et al.

Nature Communications, 2020

33087716 (PubMed )
Supplement: 41467_2020_19119_MOESM1_ESM.pdf

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Montaño A et al.

Journal of Personalized Medicine, 2020

32967112 (PubMed )
Supplement: jpm-10-00137-s001.pdf

Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms.

DiFilippo EC et al.

Leukemia, 2020

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

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

Brown AL et al.

Blood Advances, 2020

Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.

Shahid S et al.

Frontiers in Genetics, 2020

32655615 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Bolli N et al.

Leukemia, 2018

29789651 (PubMed )
Supplement: 41375_2018_37_MOESM14_ESM.xlsx › supp_Table1

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S et al.

Nature, 2018

29988082 (PubMed )
Supplement: NIHMS77608-supplement-Supplementary_Table_2.xlsx › 2.1_DC_ARCH-PD

Gene of the issue: RUNX1 mutations and inherited bleeding.

Morgan NV et al.

Platelets, 2017

Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.

Bartels S et al.

Oncotarget, 2016

27029036 (PubMed )
Supplement: oncotarget-07-30084-s002.xlsx › Table_S5

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

Latger-Cannard V et al.

Orphanet Journal of Rare Diseases, 2016

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
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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."