Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
DDR2 p.Leu63Val (p.L63V)
(
ENST00000367922.7,
ENST00000367921.8,
ENST00000446985.6 )
DDR2 p.Gly505Ser (p.G505S) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
DDR2 p.Leu63Val (p.L63V) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
DDR2 p.Gly505Ser (p.G505S) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 ) - Associated Disease
- squamous cell carcinoma
- Source Database
- DisGeNET
- Description
- Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstrated that SHP-2 is tyrosine-phosphorylated by the L63V and G505S mutants.
- Pubmed
- 23822953
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs