Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.A149P
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RUNX1

NM_001754.5:p.A149P

Associated Papers

Pre-B acute lymphoblastic leukemia presenting with NPM1 and FLT3 mutations.

Khan AA et al.

American Journal of Hematology, 2024

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Choi IY et al.

Blood Advances, 2024

38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf

Transcriptomic classes of BCR-ABL1 lymphoblastic leukemia.

Kim JC et al.

Nature Genetics, 2023

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA

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

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Lai Z et al.

Nucleic Acids Research, 2016

27060149 (PubMed )
Supplement: gkw227_Supplementary_Data.zip › nar-03544-met-k-2015-File003.xls › Suppl._Table_3

Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.

Pellagatti A et al.

Leukemia, 2016

25991409 (PubMed )
Supplement: leu2015129x2.xls › Sheet1
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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."