Varaico: Literature-Extracted Genetic Variants

Gene:STAG2
Variant:p.R1045*
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STAG2

NM_001042750.2:p.R1045*

Associated Papers

Tumor-suppressive activities of SA1/STAG2 and effects of PARP impairment during brain development.

Totaro S et al.

Disease Models & Mechanisms, 2026

A founder heterozygous mutation in Methyl-CpG binding domain protein 4 (MBD4) prevalent among Israeli Christian Arabs predisposes to increased mutagenesis.

Dadi G et al.

Haematologica, 2025

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM8_ESM.xlsx › Sheet1

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P07

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

Somatic genetic alterations predict hematological progression in GATA2 deficiency.

Largeaud L et al.

Haematologica, 2023

36727400 (PubMed )
Supplement: 2022_282250_LARGEAUD_TABS4_SUPPL.xlsx › Details

Avapritinib treatment of KIT D816V-mutant atypical chronic myeloid leukemia.

Sandow L et al.

Leukemia Research Reports, 2023

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

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_S6.xlsx › High_Confidence_SNVs

Preclinical evaluation of eltrombopag in a PDX model of myelodysplastic syndromes.

Schmitt N et al.

Leukemia, 2022

34172896 (PubMed )
Supplement: 41375_2021_1327_MOESM1_ESM.pdf

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

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Shi Y et al.

Ebiomedicine, 2020

32304999 (PubMed )
Supplement: mmc1.xlsx › 4.mutations

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone

Mechanisms underlying the heterogeneity of myelodysplastic syndromes.

Dussiau C et al.

Experimental Hematology, 2018

Architectural and functional heterogeneity of hematopoietic stem/progenitor cells in non-del(5q) myelodysplastic syndromes.

Chesnais V et al.

Blood, 2017

Mutational hierarchies in myelodysplastic syndromes dynamically adapt and evolve upon therapy response and failure.

Mossner M et al.

Blood, 2016

Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.

Taylor CF et al.

Human Molecular Genetics, 2014

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5
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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."