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Mutation Report for: CES1VAR_human-CES1

Gene_Locushuman-CES1 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commenta genomic translocation of the 5' region from the poorly expressed pseudogene CES1P1, to CES1, yielding the structural variant CES1VAR
    References
      Title: Nomenclature for alleles of the human carboxylesterase 1 gene
      Rasmussen HB, Madsen MB, Hansen PR
      Ref: Pharmacogenet Genomics, 27:78, 2017 : PubMed

              

      Title: The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects
      Stage C, Jurgens G, Guski LS, Thomsen R, Bjerre D, Ferrero-Miliani L, Lyauk YK, Rasmussen HB, Dalhoff K
      Ref: British Journal of Clinical Pharmacology, 83:1506, 2017 : PubMed

              

      Title: Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus
      Sanford JC, Wang X, Shi J, Barrie ES, Wang D, Zhu HJ, Sadee W
      Ref: Pharmacogenet Genomics, 26:197, 2016 : PubMed

              

      Title: CES1 genetic variation affects the activation of angiotensin-converting enzyme inhibitors
      Wang X, Wang G, Shi J, Aa JY, Comas R, Liang Y, Zhu HJ
      Ref: Pharmacogenomics J, 16:220, 2016 : PubMed

              


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