Cosmic » Mutation » Overview » JAK2 »p.? / c.1214+1G>C

This tab shows an overview of the mutation data [more details]
Gene Name:
JAK2
Mutation Id:
COSM118943
AA Mutation:
p.? ( Unknown )
CDS Mutation:
c.1214+1G>C ( Substitution - intronic )
GRCh37:
Ensembl Contig View 9:5065036..5065046
Cancer Genome Browser:
COSMIC GBrowse 9:5065036..5065046
CDD:
NP_004963.1
Homologene:
21033, click hereto look at the multiple sequence alignment.
Ever confirmed somatic:
Yes
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
This tab displays a table of protein features [more details]
No protein features could be predicted.
This tab displays a table of pathways affected by the mutation [more details]
SourcePathways
Reactome Signaling in Immune system
WikiPathwayIL-5 Signaling Pathway
WikiPathwayIL-3 Signaling Pathway
WikiPathwayKit Receptor Signaling Pathway
WikiPathwayIL-6 Signaling Pathway
WikiPathwayIL-4 signaling Pathway
WikiPathwayEGFR1 Signaling Pathway
WikiPathwayIL-2 Signaling Pathway
WikiPathwayType II interferon signaling (IFNG)
WikiPathwayDelta-Notch Signaling Pathway
WikiPathwayEPO Receptor Signaling
WikiPathwaySerotonin Receptor 2 -> STAT3 signaling
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed