probable cysteine--tRNA ligase, mitochondrial isoform 1 [Homo sapiens]

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Clinicopathologic Findings of CARS2 Mutation. [Pediatr Neurol. 2018]
Clinicopathologic Findings of CARS2 Mutation.
Samanta D, Gokden M, Willis E. Pediatr Neurol. 2018 Oct; 87:65-69. Epub 2018 Jul 4.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. [J Med Genet. 2015]
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, et al. J Med Genet. 2015 Aug; 52(8):532-40. Epub 2015 Mar 18.
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. [Neurology. 2014]
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, et al. Neurology. 2014 Dec 2; 83(23):2183-7. Epub 2014 Oct 31.

RefSeq mRNA
See reference mRNA sequence for the CARS2 gene (NM_024537.4).
RefSeq protein isoforms
See 19 reference sequence protein isoforms for the CARS2 gene.

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NP_078813 [Domain Mapping of Disease Mut...]
NP_078813
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Homo sapiens solute carrier family 4 member 2 (SLC4A2), transcript variant 4, mR...
Homo sapiens solute carrier family 4 member 2 (SLC4A2), transcript variant 4, mRNA
gi|1084352481|ref|NM_001199694.2|

Nucleotide
xn84d06.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2701163 3', mRNA se...
xn84d06.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2701163 3', mRNA sequence
gi|6474729|gnl|dbEST|3540659|gb|AW1 .1|

Nucleotide

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