Reactome | extracellular domain mutants of KIT [plasma membrane]

Schema > CandidateSet > Entries

extracellular domain mutants of KIT [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
consumedByEvent	[Reaction:R-HSA-9680242] Ligand-independent dimerization of KIT extracellular domain mutants - Homo sapiens [Reaction:R-HSA-9680242] Ligand-independent dimerization of KIT extracellular domain mutants - Homo sapiens
created	[InstanceEdit:9680196] Rothfels, Karen, 2020-03-25
crossReference	[DatabaseIdentifier:12020745] Mondo:0004992
dbId	9680195
disease	[Disease:1500689] cancer
displayName	extracellular domain mutants of KIT [plasma membrane]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9680038] KIT C443S [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680057] KIT D419G [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680066] KIT D419H [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680071] KIT D419N [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680097] KIT S476N [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680079] KIT D419del [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680085] KIT N505_F508dup [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680105] KIT S501_A502dup [plasma membrane] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9680030] KIT A502_Y503dup [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680045] KIT C443Y [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680177] KIT K509I [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680090] KIT S476I [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680110] KIT T417_D419delinsY [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9680051] KIT D419A [plasma membrane] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:9679992] Extracellular KIT receptor mutants, commonly found in core binding factor AML, are constitutively active and respond to imatinib mesylate [LiteratureReference:9679981] Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations
maxDepth	2
name	extracellular domain mutants of KIT
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9680195

Referrals

(input)	[Reaction:R-HSA-9680242] Ligand-independent dimerization of KIT extracellular domain mutants
(diseaseEntity)	[EntityFunctionalStatus:9680254] gain_of_function of extracellular domain mutants of KIT [plasma membrane]

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