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AKT1 (p.E17K)

Variant Data

Location

  • HGVS: ENST00000349310:c.49G>A
  • Reference Version: GRCh37
  • Chromosome: 14
  • Start: 105246551
  • Stop: 105246551
  • Strand: -1
  • Transcript: ENST00000349310 (ensembl - 74_37)
  • Gene: AKT1 ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
colorectal cancer Carpten et al., 2007, Nature My Cancer Genome (View variants) pathogenic My Cancer Genome
non-small cell lung carcinoma Carpten et al., 2007, Nature My Cancer Genome (View variants) pathogenic My Cancer Genome
breast cancer Carpten et al., 2007, Nature My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
non-small cell lung carcinoma Malanga et al., 2008, Cell Cycle My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer Kim et al., 2008, Br. J. Cancer My Cancer Genome (View variants) pathogenic My Cancer Genome
non-small cell lung carcinoma Bleeker et al., 2008, Oncogene My Cancer Genome (View variants) pathogenic My Cancer Genome
non-small cell lung carcinoma Do et al., 2008, BMC Res Notes My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer Fumagalli et al., 2010, BMC Cancer My Cancer Genome (View variants) pathogenic My Cancer Genome
breast cancer O'Brien et al., 2010, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
breast cancer Jo et al., 2011, Proc. Natl. Acad. Sci. U.S.A. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
prostate cancer Barbieri et al., 2012, Nat. Genet. Literature (View variants) likely pathogenic
prostate cancer Grasso et al., 2012, Nature Literature (View variants) likely pathogenic
breast cancer Dunlap et al., 2010, Breast Cancer Res. Treat. Literature (View variants) likely pathogenic
breast cancer Ricarte-Filho et al., 2009, Cancer Res. Literature (View variants) likely pathogenic
breast cancer Boyault et al., 2012, Breast Cancer Res. Treat. Literature (View variants) likely pathogenic
breast cancer Santarpia et al., 2012, Breast Cancer Res. Treat. Literature (View variants) likely pathogenic
breast cancer Stephens et al., 2012, Nature Literature (View variants) likely pathogenic
breast cancer Yi et al., 2013, Oncotarget Literature (View variants) likely pathogenic
endometrial adenocarcinoma Cohen et al., 2010, Gynecol. Oncol. Literature (View variants) likely pathogenic
osteosarcoma Joseph et al., 2014, Genes Chromosomes Cancer Literature (View variants) likely pathogenic
meningioma Clark et al., 2013, Science Literature (View variants) likely pathogenic
non-small cell lung carcinoma Trigka et al., 2013, Oncol. Rep. Literature (View variants) likely pathogenic
lung adenocarcinoma Imielinski et al., 2012, Cell Literature (View variants) likely pathogenic
lung small cell carcinoma Wakuda et al., 2014, Lung Cancer Literature (View variants) likely pathogenic
colorectal cancer Han et al., 2013, PLoS ONE Literature (View variants) likely pathogenic
colorectal cancer Neumann et al., 2013, Virchows Arch. Literature (View variants) likely pathogenic
colorectal cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
lung small cell carcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
lung adenocarcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
non-small cell lung carcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
meningioma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
osteosarcoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
endometrial adenocarcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
breast cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
prostate cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
breast cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
thyroid 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
prostate adenocarcinoma 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
skin melanoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
hepatocellular carcinoma 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
urinary bladder urothelial carcinoma 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
allosteric AKT inhibitors activation gain-of-function preclinical emerging 21464312, 17611497
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