This tab shows an overview of the mutation data [more details]
Gene Name:
Mutation Id:
AA Mutation:
p.R248Q (Substitution - Missense, position 248, RQ)
CDS Mutation:
c.743G>A (Substitution, position 743, GA)
17:7674220..7674220, view Ensembl Contig
COSMIC Genome Browser:
17:7674220..7674220, view in COSMIC JBrowse
Ever confirmed somatic:
FATHMM prediction:
Pathogenic (score 0.98)
This tab displays the distribution of mutated samples and tissue types. [more details]
This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene name Transcript Primary Tissue Histology Pubmed ID Zygosity Somatic Status Sample Source LOH Resistant Mutation Drugs
This tab displays a table of pathways affected by the mutation [more details]
WikiPathwayAndrogen Receptor Signaling Pathway
WikiPathwayAMPK signaling
WikiPathwayDNA damage response
WikiPathwaymiRNAs involved in DDR
WikiPathwayFluoropyrimidine Activity
WikiPathwayCell cycle
WikiPathwayMAPK signaling pathway
WikiPathwayTGF-beta Receptor Signaling Pathway
WikiPathwayWnt Signaling Pathway and Pluripotency
WikiPathwayG1 to S cell cycle control
WikiPathwayDelta-Notch Signaling Pathway
WikiPathwaySenescence and Autophagy
WikiPathwayErbB signaling pathway
WikiPathwayDNA damage response
WikiPathwayDNA damage response (only ATM dependent)
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed