Reactome | KIT D816H [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:9669459] Rothfels, Karen, 2019-12-03
crossReference	[DatabaseIdentifier:9669302] COSMIC:COSV55386862 [DatabaseIdentifier:9669292] COSMIC:COSM27127
dbId	9669445
disease	[Disease:1500689] cancer [Disease:9630839] acute myeloid leukemia [Disease:9631256] myelodysplastic syndrome
displayName	KIT D816H [plasma membrane]
endCoordinate	976
hasModifiedResidue	[ReplacedResidue:9669496] L-aspartic acid 816 replaced with L-histidine
inDisease	true
memberOf	[CandidateSet:R-HSA-9681384] ripretinib-sensitive KIT mutants [plasma membrane] - Homo sapiens [DefinedSet:R-HSA-9671494] avapritinib sensitive KIT mutants [plasma membrane] - Homo sapiens [DefinedSet:R-HSA-9669822] ponatinib sensitive KIT mutants [plasma membrane] - Homo sapiens [DefinedSet:R-HSA-9669825] regorafenib sensitive KIT mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:9669540] Rothfels, Karen, 2019-12-03
name	KIT D816H Mast/stem cell growth factor receptor precursor KIT_HUMAN c-KIT
referenceEntity	[ReferenceGeneProduct:58103] UniProt:P10721 KIT
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9669445
startCoordinate	26

(hasCandidate)	[CandidateSet:R-HSA-9669760] kinase domain KIT mutants [plasma membrane]
(hasMember)	[DefinedSet:R-HSA-9669822] ponatinib sensitive KIT mutants [plasma membrane] [DefinedSet:R-HSA-9669825] regorafenib sensitive KIT mutants [plasma membrane] [DefinedSet:R-HSA-9671494] avapritinib sensitive KIT mutants [plasma membrane] [CandidateSet:R-HSA-9681384] ripretinib-sensitive KIT mutants [plasma membrane]

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