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PIK3CA (p.R88Q)

Variant Data

Location

  • HGVS: ENST00000263967:c.263G>A
  • Reference Version: GRCh37
  • Chromosome: 3
  • Start: 178916876
  • Stop: 178916876
  • Strand: 1
  • Transcript: ENST00000263967 (ensembl - 74_37)
  • Gene: PIK3CA ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: A
  • Amino Acid: p.R88Q
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.263
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
colorectal cancer Prenen et al., 2009, Clin. Cancer Res. Literature (View variants) likely pathogenic
breast cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
colorectal cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (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
gastric adenocarcinoma 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
breast cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
uterine carcinosarcoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
prostate adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
head and neck squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
brain stem glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
urinary bladder urothelial carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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