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gene: CARS1

id833
symbolCARS1
organismHomo sapiens
full namecysteinyl-tRNA synthetase 1
summaryThis gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]
variant-disease

GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 AND See cases

GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 AND See cases

GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 AND See cases

GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 AND See cases

GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 AND See cases

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