Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.K167N
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RUNX1

NM_001001890.3:p.K167N

Associated Papers

Efficacy of novel agents against cellular models of familial platelet disorder with myeloid malignancy (FPD-MM).

Mill CP et al.

Blood Cancer Journal, 2024

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

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.

Zuo Z et al.

Biology, 2022

36671709 (PubMed )
Supplement: biology-12-00013-s001.zip › biology-2072813-supplementary.xlsx › Suppl_tbl_Vaf

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_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

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

Decker M et al.

Leukemia, 2021

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

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

Brown AL et al.

Blood Advances, 2020

De novo UBE2A mutations are recurrently acquired during chronic myeloid leukemia progression and interfere with myeloid differentiation pathways.

Magistroni V et al.

Haematologica, 2019

Germline Predisposition to Hematolymphoid Neoplasia.

Weinberg OK et al.

American Journal of Clinical Pathology, 2019

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM8_ESM.xlsx › TAML-TMDS

Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.

Kanagal-Shamanna R et al.

Haematologica, 2017

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

DiNardo CD et al.

Clinical Lymphoma, Myeloma & Leukemia, 2016

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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."