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gene: KARS1

id3735
symbolKARS1
organismHomo sapiens
full namelysyl-tRNA synthetase 1
summaryAminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
variant-disease

NM_001130089.1(KARS):c.514_515dup (p.Tyr173Serfs) AND Charcot-Marie-Tooth disease, recessive intermediate B

NM_001130089.1(KARS):c.1868C>G (p.Thr623Ser) AND not specified

NM_001130089.1(KARS):c.566+8G>A AND Charcot-Marie-Tooth, Intermediate

NM_001130089.1(KARS):c.1809C>T (p.Pro603=) AND Charcot-Marie-Tooth, Intermediate

NM_001130089.1(KARS):c.-97G>T AND Charcot-Marie-Tooth, Intermediate

... 115 more


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