Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.G872R
Back to variants list

SETBP1

NM_015559.3:p.G872R

Associated Papers

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Wong MMK et al.

Nature Communications, 2025

41073373 (PubMed )
Supplement: 41467_2025_64074_MOESM6_ESM.xlsx › Sheet1

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › RDW_cohort

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.

Jeong Y

Leukemia & Lymphoma, 2025

39819262 (PubMed )
Supplement: supplement_1.pdf

Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Maurya N et al.

Scientific Reports, 2022

35396491 (PubMed )
Supplement: 41598_2022_9864_MOESM9_ESM.xlsx › Sheet1

Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1.

Liu L et al.

Frontiers in Neuroscience, 2022

36161179 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_S5

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo R et al.

Plos Genetics, 2017

28346496 (PubMed )
Supplement: pgen.1006683.s004.xlsx › Summary

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

Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.

Bartels S et al.

Oncotarget, 2016

27029036 (PubMed )
Supplement: oncotarget-07-30084-s002.xlsx › Table_S5

ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia.

Elliott MA et al.

American Journal of Hematology, 2015

[Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia].

Senín A et al.

Medicina Clinica, 2015

CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia.

Pardanani A et al.

Leukemia, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."