Homo sapiens C9orf72-SMCR8 complex subunit (C9orf72), transcript varia - Nucleotide

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Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids. [Acta Neuropathol Commun. 2024]
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids.
van der Geest AT, Jakobs CE, Ljubikj T, Huffels CFM, Cañizares Luna M, Vieira de Sá R, Adolfs Y, de Wit M, Rutten DH, Kaal M, et al. Acta Neuropathol Commun. 2024 Sep 18; 12(1):152. Epub 2024 Sep 18.
C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal. [J Neurol Sci. 2024]
C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.
Santos Silva C, Gormicho M, Simão S, Pronto-Laborinho AC, Alves I, Pinto S, Oliveira Santos M, de Carvalho M. J Neurol Sci. 2024 Oct 15; 465:123208. Epub 2024 Aug 30.
Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions. [Int J Mol Sci. 2024]
Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions.
Longobardi A, Bellini S, Nicsanu R, Pilotto A, Geviti A, Facconi A, Tolassi C, Libri I, Saraceno C, Fostinelli S, et al. Int J Mol Sci. 2024 Jul 7; 25(13). Epub 2024 Jul 7.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the C9orf72 gene.
RefSeq protein product
See the reference protein sequence for guanine nucleotide exchange factor C9orf72 isoform b (NP_659442.2).

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Protein sequence from Nucleotide coding region
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Nucleotide