Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1 - 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.
Early life seizures and epileptic spasms in STXBP1-related disorders. [Epilepsia. 2024]
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, de Campo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, et al. Epilepsia. 2024 Mar; 65(3):805-816. Epub 2024 Jan 27.

RefSeq protein product
See the reference protein sequence for syntaxin-binding protein 1 isoform h (NP_001361244.1).

Protein
Protein sequence from Nucleotide coding region
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Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 12, mRNA
Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 12, mRNA
gi|1779859767|ref|NM_001374315.2|

Nucleotide

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Nucleotide