Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121913512
rs121913512
KIT
G 0.760 GeneticVariation CLINVAR We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. 17824795

2007
dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. 17824795

2007
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: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR We expressed c-KIT cDNA constructs encoding the V654A substitution alone and in combination with a typical activating exon 11 mutation characteristic of GIST, V560G, in factor-dependent FDC-P1 cells. 17363509

2007
dbSNP: rs121913523
rs121913523
KIT
0.730 GeneticVariation BEFREE We expressed c-KIT cDNA constructs encoding the V654A substitution alone and in combination with a typical activating exon 11 mutation characteristic of GIST, V560G, in factor-dependent FDC-P1 cells. 17363509

2007
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. 23852704

2014
dbSNP: rs121913512
rs121913512
KIT
G 0.760 GeneticVariation CLINVAR To investigate the function of activated c-KIT in GIST, we established a human GIST cell line, GIST882, which expresses an activating KIT mutation (K642E) in the first part of the cytoplasmic split tyrosine kinase domain. 11526490

2001
dbSNP: rs121913235
rs121913235
KIT
0.730 GeneticVariation BEFREE This paper describes a 52-year old patient with a de novo germline p.Trp557Arg mutation with multiple GISTs throughout the gastrointestinal tract and cutaneous hyperpigmentation. 28710566

2018
dbSNP: rs121913235
rs121913235
KIT
0.730 GeneticVariation BEFREE This finding was validated in four separate tumors, two gastric and two intestinal, from a patient with familial GIST with a germ-line KIT W557R substitution. 15161681

2004
dbSNP: rs121913516
rs121913516
KIT
0.750 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: 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: rs121913523
rs121913523
KIT
0.730 GeneticVariation BEFREE These studies suggest that SU11248 may be a useful therapeutic agent to treat gastrointestinal stromal tumors harboring the imatinib-resistant KIT-V654A or KIT-T670I mutations, but it has no effect on the activity of the PDGFRA-D842V mutant. 16638875

2006
dbSNP: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR These studies suggest that SU11248 may be a useful therapeutic agent to treat gastrointestinal stromal tumors harboring the imatinib-resistant KIT-V654A or KIT-T670I mutations, but it has no effect on the activity of the PDGFRA-D842V mutant. 16638875

2006
dbSNP: rs121913520
rs121913520
KIT
A 0.710 GeneticVariation CLINVAR These results suggest that different mutations, even at the same codon, in juxtamembrane domain of the c-kit gene show different inhibitory effects of imatinib, and that patients with GISTs or mast cell neoplasms possessing this Val559Ile mutation are resistant to imatinib therapy. 17259998

2007
dbSNP: rs121913520
rs121913520
KIT
0.710 GeneticVariation BEFREE These results suggest that different mutations, even at the same codon, in juxtamembrane domain of the c-kit gene show different inhibitory effects of imatinib, and that patients with GISTs or mast cell neoplasms possessing this Val559Ile mutation are resistant to imatinib therapy. 17259998

2007
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation. 22685257

2012
dbSNP: rs121913521
rs121913521
KIT
0.740 GeneticVariation BEFREE The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). 10086344

1999
dbSNP: rs121913517
rs121913517
KIT
0.850 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: 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: rs121913521
rs121913521
KIT
0.740 GeneticVariation BEFREE The patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has only been seen rarely before and only in the somatic state in sporadic GISTs. 17566086

2007
dbSNP: rs121913521
rs121913521
KIT
G 0.740 GeneticVariation CLINVAR The aberrant localization of oncogenic kit tyrosine kinase receptor mutants is reversed on specific inhibitory treatment. 19737976

2009
dbSNP: rs121913235
rs121913235
KIT
C 0.730 GeneticVariation CLINVAR Structure and regulation of Kit protein-tyrosine kinase--the stem cell factor receptor. 16226710

2005
dbSNP: rs121913514
rs121913514
KIT
G 0.700 GeneticVariation CLINVAR Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor. 17699867

2007