Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.P113L
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RUNX1

NM_001754.5:p.P113L

Associated Papers

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.

Kawashima N et al.

Haematologica, 2023

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable3

Validation and refinement of a RUNX1 mutation-associated gene expression signature in blast crisis chronic myeloid leukemia.

Lee KL et al.

Leukemia, 2022

35121847 (PubMed )
Supplement: 41375_2022_1508_MOESM1_ESM.xlsx › Supplementary_Table_5

Targeted next-generation sequencing identified novel mutations in triple-negative myeloproliferative neoplasms.

Chang YC et al.

Medical Oncology (northwood, London, England), 2017

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.

Ding L et al.

Nature, 2012

22237025 (PubMed )
Supplement: NIHMS341298-supplement-1.pdf
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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."