Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.D868H
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SETBP1

NM_015559.3:p.D868H

Associated Papers

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

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

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.s003.pdf

Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.

Kanagal-Shamanna R et al.

Oncotarget, 2016

26883102 (PubMed )
Supplement: oncotarget-07-14251-s001.pdf

SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias.

Damm F et al.

Leukemia, 2013

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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."