Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.A630V
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SETBP1

NM_015559.3:p.A630V

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

Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.

Vantyghem S et al.

Haematologica, 2021

32241844 (PubMed )
Supplement: 2019_242677_VANTYGHEM_SUPPL.pdf

Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

Zhang L et al.

American Journal of Human Genetics, 2015

25839328 (PubMed )
Supplement: mmc4.xlsx › Table_S3._Mutation_cohort
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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."