Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R96H
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SMC1A

NM_006306.4:p.R96H

Associated Papers

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

Erythroblastic Sarcoma in Adults and Children: Different Pathways to the Same Destination.

Fitzpatrick MJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.

Köhnke T et al.

Blood Cancer Discovery, 2024

38359087 (PubMed )
Supplement: bcd-23-0235_supplementary_figures_s1_-_s11_suppsf1.pdf

Patient-Derived iPSCs Faithfully Represent the Genetic Diversity and Cellular Architecture of Human Acute Myeloid Leukemia.

Kotini AG et al.

Blood Cancer Discovery, 2023

37067914 (PubMed )
Supplement: bcd-22-0167_supplementary_tables_1-6_suppst1-st6.pdf

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

Functional impact of cancer-associated cohesin variants on gene expression and cellular identity.

Rittenhouse NL et al.

Genetics, 2021

RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.

Kim T et al.

Scientific Reports, 2020

33208771 (PubMed )
Supplement: 41598_2020_76933_MOESM8_ESM.xlsx › TableS5

Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.

Rothenberg-Thurley M et al.

Leukemia, 2018

29472724 (PubMed )
Supplement: 41375_2018_34_MOESM2_ESM.xlsx › Supplemental_Table_3

Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome.

Duncavage EJ et al.

Leukemia, 2016

27573557 (PubMed )
Supplement: NIHMS801589-supplement-2.xlsx › Sheet1

RNA-sequencing analysis of core binding factor AML identifies recurrent ZBTB7A mutations and defines RUNX1-CBFA2T3 fusion signature.

Lavallée VP et al.

Blood, 2016

Comprehensive mutational profiling of core binding factor acute myeloid leukemia.

Duployez N et al.

Blood, 2016

Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia.

Jan M et al.

Science Translational Medicine, 2012

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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."