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    GENE:

    RARS1 (Arginyl-TRNA Synthetase 1)

    i
    Other names: RARS1, Arginyl-TRNA Synthetase 1, Arginine TRNA Ligase 1, Cytoplasmic ,Arginine—TRNA Ligase, Cytoplasmic, Arginyl-TRNA Synthetase, DALRD1, RARS, Arginyl-TRNA Synthetase, Cytoplasmic, HLD9
    3years
    Circular RNA, circular RARS, promotes aerobic glycolysis of non-small-cell lung cancer by binding with LDHA. (PubMed, Thorac Cancer)
    This study shows that circRARS can promote glycolysis and tumor progression in NSCLC by regulating LDHA.
    Journal
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    LDHA (Lactate dehydrogenase A) • RARS1 (Arginyl-TRNA Synthetase 1)
    over3years
    De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts (ASH 2022)
    Out of approximately 250,000 alleles in the gnomAD database, the DHX38 p.Thr1104Pro variant has been detected in 4 alleles; however, SF3B1 p.Lys700Glu is also detected in 22. Therefore, the rare presence of this DHX38 variant in "healthy" population may indicate that acquired DHX38 pathogenic variants exist and could be responsible for SF3B1-negative MDS-RARS.
    Clinical
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    SF3B1 (Splicing Factor 3b Subunit 1) • TFRC • RARS1 (Arginyl-TRNA Synthetase 1) • SLC25A3 (Solute Carrier Family 25 Member 3)