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PIK3R2 (p.N561D)

Variant Data

Location

  • HGVS: ENST00000222254:c.1681A>G
  • Reference Version: GRCh37
  • Chromosome: 19
  • Start: 18278061
  • Stop: 18278061
  • Strand: 1
  • Transcript: ENST00000222254 (ensembl - 74_37)
  • Gene: PIK3R2 ( View drug interactions on DGIdb )

Information

  • Reference: A
  • Variant: G
  • Amino Acid: p.N561D
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.1681
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
endometrial adenocarcinoma Cheung et al., 2011, Cancer Discov Drug Gene Knowledge Database (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
mTOR inhibitors activation loss-of-function preclinical emerging 21984976
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