Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.G870R
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SETBP1

NM_015559.3:p.G870R

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

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

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.

Aguilera-Diaz A et al.

Plos One, 2020

Favorable impact of allogeneic stem cell transplantation in patients with therapy-related myelodysplasia regardless of TP53 mutational status.

Aldoss I et al.

Haematologica, 2017

28971906 (PubMed )
Supplement: 2017.172544.ALDOSS_SUPPL.pdf

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

Clonal evolution in therapy-related neoplasms.

Fabiani E et al.

Oncotarget, 2017

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

Fernandez-Mercado M et al.

British Journal of Haematology, 2013

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