Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (EARS2), transc - Nucleotide

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Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review. [Neurobiol Dis. 2024]
Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review.
Pelayo G, Paiva Coelho M, Correia J, Bandeira A, Nogueira C, Vilarinho L, Martins E. Neurobiol Dis. 2024 Oct 1; 200:106644. Epub 2024 Aug 22.
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8. [J Mol Biol. 2024]
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E, Wiedmer T, Wang WA, Frommelt F, Steurer B, Klimek C, Lindinger S, Osthushenrich T, Garofoli A, Brocchetti S, et al. J Mol Biol. 2024 Jan 15; 436(2):168383. Epub 2023 Dec 7.
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability. [Cell. 2023]
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Gall-Duncan T, Luo J, Jurkovic CM, Fischer LA, Fujita K, Deshmukh AL, Harding RJ, Tran S, Mehkary M, Li V, et al. Cell. 2023 Oct 26; 186(22):4898-4919.e25. Epub 2023 Oct 11.

RefSeq alternative splicing
See 4 reference mRNA sequence splice variants for the EARS2 gene.
RefSeq protein product
See the reference protein sequence for nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform 1 (NP_001077083.1).

Protein
Protein sequence from Nucleotide coding region
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Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (EARS2), transcript varia...
Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (EARS2), transcript variant 1, mRNA; nuclear gene for mitochondrial product
gi|1696246595|ref|NM_001083614.2|

Nucleotide

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Nucleotide