Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17084733
rs17084733
KIT
0.010 GeneticVariation BEFREE We identified the <i>KIT</i> variant rs17084733 as a possible novel genetic biomarker for risk of developing <i>KIT</i>-WT GIST. 30983504

2019
dbSNP: rs1057519711
rs1057519711
KIT
0.010 GeneticVariation BEFREE These were PDX models harboring primary and secondary <i>KIT</i> and additional mutations; <i>KIT</i> exon 11 (p.Y570_L576del), <i>KIT</i> exon 17 (p.D816E), and <i>PTEN</i> (p.T321fs) mutations in GIST-RX1 from a patient who was unresponsive to imatinib, sunitinib, and sorafenib, and <i>KIT</i> exon 11 (p.K550_splice) and <i>KIT</i> exon 14 (p.T670I) mutations in GIST-RX2 and <i>KIT</i> exon 9 (p.502_503insYA) and <i>KIT</i> exon 17 (p.D820E) mutations in GIST-RX4 from patients with imatinib and imatinib/sunitinib resistance, respectively. 29100343

2017
dbSNP: rs780708976
rs780708976
KIT
0.010 GeneticVariation BEFREE The present case is the first proven case of multiple GIST with a c-kit germline mutation in Korea and is distinguishable from other reported germ-line c-kit mutations because the same 1676 T --> C missense mutation occurs in the normal allele as well as the affected allele, although the significance of the identical mutations remains to be investigated. 16185297

2005
dbSNP: rs121913507
rs121913507
KIT
0.020 GeneticVariation BEFREE A KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of adult-onset disease, and another three with an internal tandem duplication (p.A502_Y503dup) in exon 9, previously described in gastrointestinal stromal tumour. 24128084

2014
dbSNP: rs121913682
rs121913682
KIT
0.020 GeneticVariation BEFREE A KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of adult-onset disease, and another three with an internal tandem duplication (p.A502_Y503dup) in exon 9, previously described in gastrointestinal stromal tumour. 24128084

2014
dbSNP: rs121913507
rs121913507
KIT
0.020 GeneticVariation BEFREE Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to imatinib, the kinase activation loop mutant D816V, frequently encountered in SM, hampers the binding ability of imatinib. 16912224

2007
dbSNP: rs121913682
rs121913682
KIT
0.020 GeneticVariation BEFREE Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to imatinib, the kinase activation loop mutant D816V, frequently encountered in SM, hampers the binding ability of imatinib. 16912224

2007
dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation. 23480638

2013
dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways. 19847891

2010
dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST. 14699510

2004
dbSNP: rs1060502543
rs1060502543
KIT
T 0.700 CausalMutation CLINVAR Familial gastrointestinal stromal tumor syndrome: report of 2 cases with KIT exon 11 mutation. 25504284

2015
dbSNP: rs121913509
rs121913509
KIT
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913514
rs121913514
KIT
G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519713
rs1057519713
KIT
C 0.700 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs1057519761
rs1057519761
KIT
G 0.700 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs993022333
rs993022333
KIT
T 0.700 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs1057519708
rs1057519708
KIT
G 0.700 GeneticVariation CLINVAR KIT amplification and gene mutations in acral/mucosal melanoma in Korea. 21569090

2011
dbSNP: rs1057519713
rs1057519713
KIT
C 0.700 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs1057519761
rs1057519761
KIT
G 0.700 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs993022333
rs993022333
KIT
T 0.700 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs1060502543
rs1060502543
KIT
T 0.700 CausalMutation CLINVAR Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor. 17943734

2008
dbSNP: rs1057519708
rs1057519708
KIT
A 0.700 GeneticVariation CLINVAR Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor. 17489795

2007
dbSNP: rs1057519708
rs1057519708
KIT
G 0.700 GeneticVariation CLINVAR Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor. 17489795

2007
dbSNP: rs1057519713
rs1057519713
KIT
C 0.700 GeneticVariation CLINVAR Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998

2007
dbSNP: rs1057519761
rs1057519761
KIT
G 0.700 GeneticVariation CLINVAR Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998

2007