Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.A60V
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RUNX1

NM_001754.5:p.A60V

Associated Papers

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

40420999 (PubMed )
Supplement: HEM3-9-e70148-s007.xlsx › SNV

CNL and aCML should be considered as a single entity based on molecular profiles and outcomes.

Carreño-Tarragona G et al.

Blood Advances, 2023

36375042 (PubMed )
Supplement: BLOODA_ADV-2022-008204-mmc1.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

Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

Li Y et al.

The Journal of Clinical Investigation, 2021

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Clinico-pathologic characteristics and outcomes of the World Health Organization (WHO) provisional entity de novo acute myeloid leukemia with mutated RUNX1.

Quesada AE et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.

Simon L et al.

Blood, 2020

BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology.

Shankar GM et al.

Acta Neuropathologica, 2016

26487540 (PubMed )
Supplement: 401_2015_1492_MOESM2_ESM.xlsx › Shankar_STable2

RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.

Koh CP et al.

Leukemia, 2013

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