Reactome | FGFR3 K650Q [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR3 K650Q [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2033343] FGFR3 K650Q mutant dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2033343] FGFR3 K650Q mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1614409] Rothfels, K, 2011-09-28
crossReference	[DatabaseIdentifier:12021290] Mondo:0007793 [DatabaseIdentifier:2032964] COSMIC:COSV53407424
dbId	1614410
disease	[Disease:2032940] bone development disease [Disease:1625207] hypochondroplasia [Disease:1500689] cancer [Disease:1493885] bladder carcinoma
displayName	FGFR3 K650Q [plasma membrane]
endCoordinate	806
hasModifiedResidue	[ReplacedResidue:1614408] L-lysine 650 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:2032927] Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype [LiteratureReference:2032932] Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma
maxDepth	1
memberOf	[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649566] Rothfels, Karen, 2014-11-20
name	FGFR3 K650Q
referenceEntity	[ReferenceGeneProduct:uniprot:P22607] UniProt:P22607 FGFR3
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1614410
startCoordinate	23
updateTrackers	[UpdateTracker:9891385] Update Tracker - [EntityWithAccessionedSequence:1614410] FGFR3 K650Q [plasma membrane] - v52:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9891385] Update Tracker - [EntityWithAccessionedSequence:1614410] FGFR3 K650Q [plasma membrane] - v52:[modifyName]
(hasMember)	[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane]
(hasComponent)	[Complex:R-HSA-2033343] FGFR3 K650Q mutant dimer [plasma membrane]

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