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MTOR (p.S2215Y)

Variant Data

Location

  • HGVS: ENST00000361445:c.6644C>A
  • Reference Version: GRCh37
  • Chromosome: 1
  • Start: 11184573
  • Stop: 11184573
  • Strand: -1
  • Transcript: ENST00000361445 (ensembl - 74_37)
  • Gene: MTOR ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: T
  • Amino Acid: p.S2215Y
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.6644
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
renal carcinoma Grabiner et al., 2014, Cancer Discov Drug Gene Knowledge Database (View variants) likely pathogenic
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
uterine corpus endometrial carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
skin melanoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
cervix carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
papillary renal cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
renal clear cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
glioblastoma multiforme Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
rapamycin activation gain-of-function preclinical emerging 24631838
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