Reactome | PDGFRA N848K [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-9672052] PDGFRA N848K dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:9671962] Rothfels, Karen, 2019-12-23
crossReference	[DatabaseIdentifier:9671940] COSMIC:COSV57271156
dbId	9671961
disease	[Disease:1500689] cancer [Disease:9661830] gastrointestinal stromal tumor [Disease:1996318] astrocytoma
displayName	PDGFRA N848K [plasma membrane]
endCoordinate	1089
hasModifiedResidue	[ReplacedResidue:9671916] L-asparagine 848 replaced with L-lysine
inDisease	true
literatureReference	[LiteratureReference:9671911] PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib
memberOf	[CandidateSet:R-HSA-9672124] kinase domain mutants of PDGFRA [plasma membrane] - Homo sapiens [DefinedSet:R-HSA-9672129] imatinib-sensitive PDGFR mutants [plasma membrane] - Homo sapiens
name	PDGFRA N848K Alpha platelet-derived growth factor receptor PGDS_HUMAN
referenceEntity	[ReferenceGeneProduct:61602] UniProt:P16234 PDGFRA
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9671961
startCoordinate	24

(hasMember)	[DefinedSet:R-HSA-9672129] imatinib-sensitive PDGFR mutants [plasma membrane] [CandidateSet:R-HSA-9672124] kinase domain mutants of PDGFRA [plasma membrane]
(hasComponent)	[Complex:R-HSA-9672052] PDGFRA N848K dimer [plasma membrane]

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