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AKT1 - AKT serine/threonine kinase 1

  • Synonym(s) : AKT, PKB, PRKBA, protein kinase B, RAC
  • Previous symbols and names : v-akt murine thymoma viral oncogene homolog 1
  • Type : gene with protein product
  • Chromosomal location : 14q32.33
  • OMIM: 164730
  • HGNC: 391
  • UniProtKB: P31749
  • Genatlas: AKT1
  • Ensembl: ENSG00000142208
  • IUPHAR-DB: 1479
  • Reactome: P31749
  • LOVD: AKT1

Diseases list

  • Disease-causing germline mutation(s) in Meningioma ORPHA:2495
  • Disease-causing germline mutation(s) (gain of function) in Cowden syndrome ORPHA:201
  • Disease-causing somatic mutation(s) in Proteus syndrome ORPHA:744
  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

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