Homo sapiens myosin binding protein C1 (MYBPC1), transcript variant 6, - Nucleotide

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Congenital tremor and myopathy secondary to novel MYBPC1 variant. [J Neurol Sci. 2024]
Congenital tremor and myopathy secondary to novel MYBPC1 variant.
Leduc-Pessah H, Smith IC, Kernohan KD, Sampaio M, Melkus G, Strasser L, Chisholm C, Huang L, Hanes I, Tran MA, et al. J Neurol Sci. 2024 Feb 15; 457:122864. Epub 2024 Jan 4.
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. [Pediatr Neurol. 2023]
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Uneoka S, Kobayashi T, Numata-Uematsu Y, Oikawa Y, Katata Y, Okubo Y, Abe Y, Kikuchi A, Takayama J, Tamiya G, et al. Pediatr Neurol. 2023 Sep; 146:16-20. Epub 2023 Jun 12.
Large-scale phosphomimetic screening identifies phospho-modulated motif-based protein interactions. [Mol Syst Biol. 2023]
Large-scale phosphomimetic screening identifies phospho-modulated motif-based protein interactions.
Kliche J, Garvanska DH, Simonetti L, Badgujar D, Dobritzsch D, Nilsson J, Davey NE, Ivarsson Y. Mol Syst Biol. 2023 Jul 11; 19(7):e11164. Epub 2023 May 23.

RefSeq alternative splicing
See 45 reference mRNA sequence splice variants for the MYBPC1 gene.
RefSeq protein product
See the reference protein sequence for myosin-binding protein C, slow-type isoform 6 (NP_001241648.1).

Protein
Protein sequence from Nucleotide coding region
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Nucleotide