Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Val655Ala (p.V655A)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Thr671Ile (p.T671I) ( ENST00000412167.7, ENST00000288135.6, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Val655Ala (p.V655A) ( ENST00000689832.1, ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Thr671Ile (p.T671I) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- Gastrointestinal Stromal Tumors
- Source Database
- DisGeNET
- Description
- The reported mechanism of imatinib resistance in GISTs involves missense mutation in the kinase domain of KIT, including Thr670Ile, Tyr823Asp, and Val654Ala.
- Pubmed
- 15946589
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.760239543636234
- Year of publication
- 2005
Drugs