Details for Gene GARS1

GENE NAME GARS1
CHROMOSOME 7
ENSEMBL ID ENSG00000106105
ENTREZ ID 2617
UNIPROT ACCESSION NUMBER P41250
GO MOLECULAR FUNCTION bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity; protein binding; identical protein binding; glycine-tRNA ligase activity; ATP binding; protein dimerization activity; transferase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-379726; R-HSA-72766; R-HSA-392499; hsa00970; R-HSA-379716; R-HSA-379724
3 combinations linked to GARS1 OLI947; OLI949; OLI948
3 variants linked to GARS1 GARS1:c.479C>G, p.Ala160Gly; GARS1:c.684C>G, p.Phe228Leu; GARS1:c.2171C>A, p.Pro724His
1 disease linked to GARS1 Amyotrophic lateral sclerosis

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