syntaxin-binding protein 2 isoform b [Homo sapiens]

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STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis. [Front Immunol. 2020]
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Benavides N, Spessott WA, Sanmillan ML, Vargas M, Livingston MS, Erickson N, Pozos TC, McCormick ME, Scharrig E, Messinger YH, et al. Front Immunol. 2020; 11:545414. Epub 2020 Oct 8.
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update. [Hum Mutat. 2018]
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS, Pylypenko O, Overeem AW, Zibouche M, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, van der Sluijs P, Swertz MA, et al. Hum Mutat. 2018 Mar; 39(3):333-344. Epub 2018 Jan 17.
Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations. [JCI Insight. 2017]
Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.
Vogel GF, van Rijn JM, Krainer IM, Janecke AR, Posovszky C, Cohen M, Searle C, Jantchou P, Escher JC, Patey N, et al. JCI Insight. 2017 Jul 20; 2(14). Epub 2017 Jul 20.

RefSeq genomic sequence
See the genomic reference sequence for the STXBP2 gene (NG_016709.1).
RefSeq mRNA
See reference mRNA sequence for the STXBP2 gene (NM_001127396.3).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the STXBP2 gene.

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NP_001120868 [Domain Mapping of Disease Mut...]
NP_001120868
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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