Header logo

GNA11 (p.Q209P)

Variant Data

Location

  • HGVS: ENST00000078429:c.626A>C
  • Reference Version: GRCh37
  • Chromosome: 19
  • Start: 3118942
  • Stop: 3118942
  • Strand: 1
  • Transcript: ENST00000078429 (ensembl - 74_37)
  • Gene: GNA11 ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
melanoma Kalinec et al., 1992, Mol. Cell. Biol. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Landis et al., 1989, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Van Raamsdonk et al., 2010, N. Engl. J. Med. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Khalili et al., 2012, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Ho et al., 2012, PLoS ONE My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
uveal melanoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
selumetinib activation gain-of-function early trials emerging J Clin Oncol 2013;31: (suppl; abstr CRA9003)
PI3K pathway inhibitors + MEK inhibitors activation gain-of-function preclinical emerging 22733540, 22808163
Produced by The McDonnell Genome Institute at the Washington University School of Medicine

DoCM by The McDonnell Genome Institute at Washington University School of Medicine is licensed under a Creative Commons Attribution 4.0 International License. Questions? Comments? Concerns? You can contact us here.