Gene: KIT ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE Transformed (L576P)KIT melanocytes showed downregulation of MITF expression characteristic of melanoma initiating cells (MICs). 26973244

2016
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE The overall frequency of activating KIT gene mutations in acral lentiginous/mucosal melanomas was 15% (14 out of 91 cases), being the L576P mutation in exon 11 the most frequently detected (4 of 14 cases). 19718013

2009
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE Interestingly, the exon 11-activating mutation was L576P, the same mutation that characterizes the rare c-kit mutation-positive cases of malignant melanoma. 16741525

2006
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE Evaluation of the DNA sequencing electropherograms from all 3 cases of L576P mutation-positive melanoma suggests a selective loss of the normal allele. 16647948

2006
dbSNP: rs1057519710
rs1057519710
KIT
0.710 GeneticVariation BEFREE Finally, we found significant growth suppressive effects of sunitinib in two acral melanoma cell lines; one harboring the D820Y mutation and one showing SCF-dependent KIT activation. 19035443

2009
dbSNP: rs2237028
rs2237028
KIT
0.010 GeneticVariation BEFREE Additionally, a common SNP, rs2237028, was associated with MM risk, and 6 KIT variants were associated with nevus count. 23020152

2013
dbSNP: rs1060502550
rs1060502550
KIT
0.010 GeneticVariation BEFREE A novel Thr574Ala (c.1720A>G) KIT mutation, which has not been reported in melanoma or other tumor types, was identified in one genital melanoma case. 21569090

2011
dbSNP: rs1057520031
rs1057520031
KIT
0.010 GeneticVariation BEFREE In the present study, D816H and K558E mutations of the KIT gene were revealed in the melanoma arising from a mature cystic teratoma, but not in a mature cystic teratoma. 19264228

2009