Homo sapiens SAM and SH3 domain containing 3 (SASH3), RefSeqGene on ch - Nucleotide

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Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3. [Br J Haematol. 2023]
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Novak W, Berner J, Svaton M, Jimenez-Heredia R, Segarra-Roca A, Frohne A, Guiliani S, Rouhani D, Eder SK, Rottal A, et al. Br J Haematol. 2023 Nov; 203(4):678-683. Epub 2023 Aug 30.
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency. [Front Immunol. 2022]
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Labrador-Horrillo M, Franco-Jarava C, Garcia-Prat M, Parra-Martínez A, Antolín M, Salgado-Perandrés S, Aguiló-Cucurull A, Martinez-Gallo M, Colobran R. Front Immunol. 2022; 13:881206. Epub 2022 Apr 8.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation. [Blood. 2021]
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs AK, Bosticardo M, Fink D, et al. Blood. 2021 Sep 23; 138(12):1019-1033.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the SASH3 gene.

Protein
Protein sequence from Nucleotide coding region
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RNA
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SNP
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zinc finger protein 607 isoform X2 [Homo sapiens]
zinc finger protein 607 isoform X2 [Homo sapiens]
gi|2217323513|ref|XP_047295509.1|

Protein
Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA
Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA
gi|1519313697|ref|NM_032689.5|

Nucleotide

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Nucleotide