Homo sapiens glycine receptor alpha 1 (GLRA1), transcript variant 1, m - Nucleotide

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Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene. [Parkinsonism Relat Disord. 2022]
Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene.
Tezen D, Şimşir G, Çokar Ö, Demirbilek V, Başak AN, Yapıcı Z. Parkinsonism Relat Disord. 2022 Dec; 105:128-131. Epub 2022 Nov 15.
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome. [J Biol Chem. 2022]
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
Aboheimed GI, AlRasheed MM, Almudimeegh S, Peña-Guerra KA, Cardona-Londoño KJ, Salih MA, Seidahmed MZ, Al-Mohanna F, Colak D, Harvey RJ, et al. J Biol Chem. 2022 Jul; 298(7):102018. Epub 2022 May 6.
The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents. [J Physiol. 2020]
The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents.
Wu Z, Lape R, Jopp-Saile L, O'Callaghan BJ, Greiner T, Sivilotti LG. J Physiol. 2020 Aug; 598(16):3417-3438. Epub 2020 Jun 18.

RefSeq alternative splicing
See 5 reference mRNA sequence splice variants for the GLRA1 gene.
RefSeq protein product
See the reference protein sequence for glycine receptor subunit alpha-1 isoform 1 precursor (NP_001139512.1).

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Protein sequence from Nucleotide coding region
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GenScript latest version of gene cDNA ORF Clone [GenScript latest version of g...]
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Nucleotide