Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.V688I
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SETBP1

NM_015559.3:p.V688I

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

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia.

Patnaik MM et al.

American Journal of Hematology, 2017

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