Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.P1072L
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SETBP1

NM_015559.3:p.P1072L

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

Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.

Das S et al.

Scientific Reports, 2023

37369741 (PubMed )
Supplement: 41598_2023_37266_MOESM2_ESM.xlsx › Table_S5
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