Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.T781I
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SETBP1

NM_015559.3:p.T781I

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

Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.

Jikuya R et al.

Ebiomedicine, 2023

37182269 (PubMed )
Supplement: mmc4.xlsx › Candidate_germline_variants

Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Yun J et al.

Human Genomics, 2023

36814285 (PubMed )
Supplement: 40246_2023_458_MOESM2_ESM.xlsx › Sheet1
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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."