Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.K117_V118Splc
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RUNX1

NM_001754.5:p.K117_V118Splc

Associated Papers

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

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

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

Yu K et al.

Blood Advances, 2024

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Marconi C et al.

Haematologica, 2023

36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS6_SUPPL.xlsx › Foglio1

Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort.

Yamamori A et al.

American Journal of Hematology, 2023

Genomic Landscape of Patients with Germline RUNX1 Variants and Familial Platelet Disorder with Myeloid Malignancy.

Yu K et al.

Biorxiv : the Preprint Server for Biology, 2023

A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Wang X et al.

Haematologica, 2022

35142151 (PubMed )
Supplement: 2021_279908_WANG_TABS3.xlsx › V15

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies.

Förster A et al.

Cancers, 2022

35884491 (PubMed )
Supplement: cancers-14-03431-s001.zip › cancers-1797070-Supplementary_Table_S1.xlsx › Tabelle1

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM4_ESM.xlsx › Sheet1

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

Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.

Lee B et al.

Frontiers in Oncology, 2021

33777778 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_Data_Set_1

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

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Shi Y et al.

Ebiomedicine, 2020

32304999 (PubMed )
Supplement: mmc1.xlsx › 4.mutations

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A et al.

Nature Communications, 2020

32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM5_ESM.xlsx › ST_2_Group_1_families

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

Mangaonkar AA et al.

Mayo Clinic Proceedings, 2019

Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.

Perez Botero J et al.

Leukemia & Lymphoma, 2017

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes.

Haferlach T et al.

Leukemia, 2014

24220272 (PubMed )
Supplement: leu2013336x2.doc
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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."