Reactome | KIT Y823D [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:9669588] Rothfels, Karen, 2019-12-03
crossReference	[DatabaseIdentifier:12021300] Mondo:0003669 [DatabaseIdentifier:9669342] COSMIC:COSM24707 [DatabaseIdentifier:9669296] COSMIC:COSV55388545
dbId	9669587
disease	[Disease:1500689] cancer [Disease:9669018] testis seminoma [Disease:9661830] gastrointestinal stromal tumor
displayName	KIT Y823D [plasma membrane]
endCoordinate	976
hasModifiedResidue	[ReplacedResidue:9669516] L-tyrosine 823 replaced with L-aspartic acid
inDisease	true
literatureReference	[LiteratureReference:9669213] KIT mutations are common in testicular seminomas
maxDepth	1
memberOf	[CandidateSet:R-HSA-9669760] kinase domain KIT mutants [plasma membrane] - Homo sapiens [DefinedSet:R-HSA-9671494] avapritinib sensitive KIT mutants [plasma membrane] - Homo sapiens
name	KIT Y823D Mast/stem cell growth factor receptor precursor KIT_HUMAN c-KIT
referenceEntity	[ReferenceGeneProduct:uniprot:P10721] UniProt:P10721 KIT
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9669587
startCoordinate	26

(hasMember)

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