Gene: KIT ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE Dasatinib overrides the differentiation blockage in a patient with mutant-<i>KIT</i> D816V positive CBFβ-MYH11 leukemia. 29545943

2018
dbSNP: rs121913682
rs121913682
KIT
0.040 GeneticVariation BEFREE Dasatinib overrides the differentiation blockage in a patient with mutant-<i>KIT</i> D816V positive CBFβ-MYH11 leukemia. 29545943

2018
dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE Asp816Val mutation was found in 3.5% of cases of AML and Val560Gly mutation in 1 sample with acute biclonal leukemia. 25247397

2015
dbSNP: rs121913682
rs121913682
KIT
0.040 GeneticVariation BEFREE Asp816Val mutation was found in 3.5% of cases of AML and Val560Gly mutation in 1 sample with acute biclonal leukemia. 25247397

2015
dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V, which confers resistance to imatinib. 20553795

2010
dbSNP: rs121913682
rs121913682
KIT
0.040 GeneticVariation BEFREE In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V, which confers resistance to imatinib. 20553795

2010
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
dbSNP: rs121913682
rs121913682
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
dbSNP: rs121913514
rs121913514
KIT
0.030 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543

2019
dbSNP: rs121913514
rs121913514
KIT
0.030 GeneticVariation BEFREE Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cells FDC-P1; transduced FDC-P1 cells ectopically expressing mutated human KIT N822K oncogene and/or human AML1-ETO oncogene; and human leukemia Kasumi-1 cells expressing both of these oncogenes. 22101339

2011
dbSNP: rs121913514
rs121913514
KIT
0.030 GeneticVariation BEFREE Furthermore, dasatinib prolonged lifespan of mice bearing AE and HyC-KIT N822K-coexpressing leukemic cells and exerted synergic effects while combined with cytarabine, thus providing a potential therapeutic for t(8;21) leukemia. 21262832

2011
dbSNP: rs121913521
rs121913521
KIT
0.020 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543

2019
dbSNP: rs121913521
rs121913521
KIT
0.020 GeneticVariation BEFREE Asp816Val mutation was found in 3.5% of cases of AML and Val560Gly mutation in 1 sample with acute biclonal leukemia. 25247397

2015
dbSNP: rs3822214
rs3822214
KIT
0.010 GeneticVariation BEFREE Other genetic changes were found in 15 of 57 samples with AML: polymorphisms Met541Leu in 14% of cases, Lys546Lys in 7% and 1 case of acute biclonal leukemia, Ile798Ile in 5.3% of cases, Met541Leu in 1 acute biphenotypic leukemia and in 6.3% of ALL. 25247397

2015