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MAP2K1 (p.E120D)

Variant Data

Location

  • HGVS: ENST00000307102:c.360G>T
  • Reference Version: GRCh37
  • Chromosome: 15
  • Start: 66729152
  • Stop: 66729152
  • Strand: 1
  • Transcript: ENST00000307102 (ensembl - 74_37)
  • Gene: MAP2K1 ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: T
  • Amino Acid: p.E120D
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.360
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
cancer Emery et al., 2009, Proc. Natl. Acad. Sci. U.S.A. Drug Gene Knowledge Database (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
MEK inhibitors activation gain-of-function preclinical emerging 19915144
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