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MAP2K1 (p.P124S)

Variant Data

Location

  • HGVS: ENST00000307102:c.370C>T
  • Reference Version: GRCh37
  • Chromosome: 15
  • Start: 66729162
  • Stop: 66729162
  • Strand: 1
  • Transcript: ENST00000307102 (ensembl - 74_37)
  • Gene: MAP2K1 ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
melanoma Nikolaev et al., 2012, Nat. Genet. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
melanoma Shi et al., 2012, Cancer Discov My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
skin melanoma 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
colorectal cancer 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
melanoma Emery et al., 2009, Proc. Natl. Acad. Sci. U.S.A. CIViC Knowledgebase (View variants) Civic logo CIViC

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
BRAF inhibitors in BRAF mutant tumor activation gain-of-function case report emerging 22588879
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