Reactome | KIT D816V [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

KIT D816V [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:9669459] Rothfels, Karen, 2019-12-03
crossReference	[DatabaseIdentifier:9669331] COSMIC:COSV55386424 [DatabaseIdentifier:9669343] COSMIC:COSM28677
dbId	9669452
disease	[Disease:1500689] cancer [Disease:1614289] melanoma [Disease:9630839] acute myeloid leukemia [Disease:9669013] mast cell neoplasm
displayName	KIT D816V [plasma membrane]
endCoordinate	976
hasModifiedResidue	[ReplacedResidue:9669502] L-aspartic acid 816 replaced with L-valine
inDisease	true
literatureReference	[LiteratureReference:9669155] Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product
memberOf	[DefinedSet:R-HSA-9669735] dasatinib sensitive KIT mutants [plasma membrane] - Homo sapiens [CandidateSet:R-HSA-9669760] kinase domain KIT mutants [plasma membrane] - Homo sapiens [DefinedSet:R-HSA-9669738] midostaurin sensitive KIT mutants [plasma membrane] - Homo sapiens [DefinedSet:R-HSA-9669831] sorafenib resistant KIT mutants [plasma membrane] - Homo sapiens [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-9669825] regorafenib sensitive KIT mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:9680209] Rothfels, Karen, 2020-03-25
name	KIT D816V 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-9669452
startCoordinate	26

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