Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE Both PKC412 and the proteasome-inhibitor bortezomib were found to decrease growth and promote expression of Bim in MC leukemia cell lines HMC-1.1 (D816V negative) and HMC-1.2 (D816V positive). 19850739

2010

dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE Two subclones of the HMC1 mast leukaemia cell line were used; both express an identical KIT allele-specific regulatory type mutation (V560G), but differ in that one also expresses an enzymatic site type mutation (D816V) that confers on them resistance to imatinib mesylate tyrosine kinase inhibitor. 19804454

2010

dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE Additionally, dasatinib induced apoptosis in mast cell and leukemia cell lines expressing KIT(D816V). 18986703

2009

dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE In attempting to establish a murine model of human KIT(D816V) (hKIT(D816V))-mediated leukemia, we uncovered an unexpected relationship between cellular transformation and intracellular trafficking. 17060458

2007