Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 2 - Nucleotide

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Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction. [Biol Psychiatry. 2024]
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
André T, van Berkel AA, Singh G, Abualrous ET, Diwan GD, Schmenger T, Braun L, Malsam J, Toonen RF, Freund C, et al. Biol Psychiatry. 2024 Jul 15; 96(2):125-136. Epub 2024 Mar 13.
Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F. [Hum Mol Genet. 2024]
Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.
Öttl M, Toonen RF, Verhage M. Hum Mol Genet. 2024 May 18; 33(11):991-1000.
GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of STXBP1 Encephalopathy. [J Neurosci. 2024]
GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of STXBP1 Encephalopathy.
Kim JH, Chen W, Chao ES, Rivera A, Kaku HN, Jiang K, Lee D, Chen H, Vega JM, Chin TV, et al. J Neurosci. 2024 Apr 3; 44(14). Epub 2024 Apr 3.

RefSeq alternative splicing
See 12 reference mRNA sequence splice variants for the STXBP1 gene.
RefSeq protein product
See the reference protein sequence for syntaxin-binding protein 1 isoform b (NP_001027392.1).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide