Reactome | KIT N822K [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

KIT N822K [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:9669459] Rothfels, Karen, 2019-12-03
crossReference	[DatabaseIdentifier:12021300] Mondo:0003669 [DatabaseIdentifier:9669305] COSMIC:COSV55387147 [DatabaseIdentifier:9669327] COSMIC:COSV55389584 [DatabaseIdentifier:9669310] COSMIC:COSM19023
dbId	9669464
disease	[Disease:1500689] cancer [Disease:9630839] acute myeloid leukemia [Disease:9669018] testis seminoma [Disease:9661830] gastrointestinal stromal tumor [Disease:1614289] melanoma
displayName	KIT N822K [plasma membrane]
endCoordinate	976
hasModifiedResidue	[ReplacedResidue:9669440] L-asparagine 822 replaced with L-lysine
inDisease	true
literatureReference	[LiteratureReference:9669064] Amplification of a novel c-Kit activating mutation Asn(822)-Lys in the Kasumi-1 cell line: a t(8;21)-Kit mutant model for acute myeloid leukemia [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-9669738] midostaurin sensitive KIT mutants [plasma membrane] - Homo sapiens [CandidateSet:R-HSA-9681384] ripretinib-sensitive KIT mutants [plasma membrane] - Homo sapiens [DefinedSet:R-HSA-9669825] regorafenib sensitive KIT mutants [plasma membrane] - Homo sapiens
name	KIT N822K 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-9669464
startCoordinate	26

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