Homo sapiens SET binding protein 1 (SETBP1), transcript variant 4, mRN - Nucleotide

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Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency. [Hum Genomics. 2024]
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, et al. Hum Genomics. 2024 Mar 22; 18(1):29. Epub 2024 Mar 22.
Schinzel-Giedion Syndrome. [GeneReviews(®). 1993]
Schinzel-Giedion Syndrome.
Duis J, van Bon BWM. GeneReviews(®). 1993-2024. 2024 Mar 7
First-hit SETBP1 mutations cause a myeloproliferative disorder with bone marrow fibrosis. [Blood. 2024]
First-hit SETBP1 mutations cause a myeloproliferative disorder with bone marrow fibrosis.
Crespiatico I, Zaghi M, Mastini C, D'Aliberti D, Mauri M, Mercado CM, Fontana D, Spinelli S, Crippa V, Inzoli E, et al. Blood. 2024 Apr 4; 143(14):1399-1413.

RefSeq alternative splicing
See 34 reference mRNA sequence splice variants for the SETBP1 gene.
RefSeq protein product
See the reference protein sequence for SET-binding protein isoform a (NP_001366071.1).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide