Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 p.Asn550Lys (p.N550K)
(
ENST00000369061.8,
ENST00000369060.8,
ENST00000369059.5,
ENST00000478859.5,
ENST00000457416.7,
ENST00000346997.6,
ENST00000351936.11,
ENST00000356226.8,
ENST00000357555.9,
ENST00000358487.10,
ENST00000360144.7,
ENST00000369056.5,
ENST00000613048.4,
ENST00000638709.2,
ENST00000682550.1,
ENST00000682772.1,
ENST00000683211.1,
ENST00000684153.1 )
FGFR2 p.Asn550Lys (p.N550K) ( ENST00000346997.6, ENST00000351936.11, ENST00000369061.8, ENST00000356226.8, ENST00000357555.9, ENST00000684153.1, ENST00000358487.10, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000457416.7, ENST00000478859.5, ENST00000613048.4, ENST00000638709.2, ENST00000682550.1, ENST00000682772.1, ENST00000683211.1 ) - Associated Disease
- endometrial carcinoma
- Source Database
- DisGeNET
- Description
- We cultured BaF3 cells overexpressing FGFR2 in high concentrations of dovitinib and identified 14 dovitinib-resistant mutations, including the N550K mutation observed in 25% of FGFR2(mutant) endometrial cancers (ECs).
- Pubmed
- 23908597
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.124614511825365
- Year of publication
- 2013
Drugs