Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913523
rs121913523
KIT
0.730 GeneticVariation BEFREE In addition, it could inhibit imatinib resistant cKIT T670I and V654A mutants <i>in vitro</i> and <i>in vivo</i> GIST preclinical models. 31205508

2019
dbSNP: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998

2007
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: 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: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR Functional analyses and molecular modeling of two c-Kit mutations responsible for imatinib secondary resistance in GIST patients. 16751810

2006
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 Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. 16954519

2006
dbSNP: rs121913523
rs121913523
KIT
C 0.730 GeneticVariation CLINVAR GIST cells carrying KIT -del557-558/T670I or KIT -InsAY502-503/V654A mutations were resistant to imatinib, while PKC412 significantly inhibited autophosporylation of these mutants. 15685537

2005