| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | BEFREE | The mutation, a G-->T transversion at nt 2467 of the c-kit gene resulting in Asp816-->Tyr substitution, corresponds to the D814Y and D817Y mutations identified and characterized in the murine P815 mastocytoma and the rat RBL-2H3 mast cell leukemia cell lines. | 9714703 | 1998 |
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0.020 | GeneticVariation | BEFREE | The mutation, a G-->T transversion at nt 2467 of the c-kit gene resulting in Asp816-->Tyr substitution, corresponds to the D814Y and D817Y mutations identified and characterized in the murine P815 mastocytoma and the rat RBL-2H3 mast cell leukemia cell lines. | 9714703 | 1998 |
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|
0.020 | GeneticVariation | BEFREE | Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine for aspartic acid (D814Y), has been described in the mouse mastocytoma cell line P815. | 8962111 | 1996 |
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|
0.020 | GeneticVariation | BEFREE | Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine for aspartic acid (D814Y), has been described in the mouse mastocytoma cell line P815. | 8962111 | 1996 |
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|
0.010 | GeneticVariation | BEFREE | 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. | 23127495 | 2013 |
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|
0.010 | GeneticVariation | BEFREE | 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. | 23127495 | 2013 |