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Details on Person extracellular domain mutants of KIT [plasma membrane]

Class:Id	CandidateSet:9680195
_displayName	extracellular domain mutants of KIT [plasma membrane]
_timestamp	2020-03-25 21:00:10
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:9680196] Rothfels, Karen, 2020-03-25
disease	[Disease:1500689] cancer
hasCandidate	[EntityWithAccessionedSequence:9680038] KIT C443S [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680057] KIT D419G [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680066] KIT D419H [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680071] KIT D419N [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680097] KIT S476N [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680079] KIT D419del [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680085] KIT N505_F508dup [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680105] KIT S501_A502dup [plasma membrane] [Homo sapiens]
hasMember	[EntityWithAccessionedSequence:9680030] KIT A502_Y503dup [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680045] KIT C443Y [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680177] KIT K509I [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680090] KIT S476I [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680110] KIT T417_D419delinsY [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9680051] KIT D419A [plasma membrane] [Homo sapiens]
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
name	extracellular domain mutants of KIT
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9680197] R-HSA-9680195.1
(diseaseEntity)	[EntityFunctionalStatus:9680254] gain_of_function of extracellular domain mutants of KIT [plasma membrane]
(input)	[Reaction:9680242] Ligand-independent dimerization of KIT extracellular domain mutants [Homo sapiens]
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No pathways have been reviewed or authored by extracellular domain mutants of KIT [plasma membrane] (9680195)