Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Asp817Val (p.D817V)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Asp817Val (p.D817V) ( ENST00000686011.1, ENST00000687109.1, ENST00000288135.6, ENST00000412167.7, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- benign mastocytoma
- Source Database
- DisGeNET
- Description
- We tested this hypothesis on a BaF/3 cell line modified to express either KIT wild-type (WT) or KIT D816V, on the human mastocytoma cell line HMC1.2, and among 28 patients with proven SM who did (n = 24) or did not (n = 4) carry the D816V KIT mutation and displayed various SM subtypes by using a simple flow cytometry assay to quantify KIT relocalization upon dasatinib treatment.
- Pubmed
- 23127495
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2013
Drugs