Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.G170R
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RUNX1

NM_001754.5:p.G170R

Associated Papers

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

Ozturk K et al.

Cell Reports, 2024

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

Yu K et al.

Blood Advances, 2024

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

Ozturk K et al.

Biorxiv : the Preprint Server for Biology, 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

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

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

Validation and clinical application of transactivation assays for RUNX1 variant classification.

Decker M et al.

Blood Advances, 2022

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

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

Brown AL et al.

Blood Advances, 2020

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

Recognizing familial myeloid leukemia in adults.

Nickels EM et al.

Therapeutic Advances in Hematology, 2013

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias.

Rocquain J et al.

Bmc Cancer, 2010

20678218 (PubMed )
Supplement: 1471-2407-10-401-S1.PDF
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