Reactome | FGFR3 G380R [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR3 G380R [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2033337] FGFR3 G380R mutant dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2033337] FGFR3 G380R mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1614396] Rothfels, K, 2011-09-28
crossReference	[DatabaseIdentifier:12021293] Mondo:0007037 [DatabaseIdentifier:2032948] COSMIC:COSV53399372 [DatabaseIdentifier:2032945] COSMIC:COSM24812
dbId	1614398
disease	[Disease:2032940] bone development disease [Disease:1625206] achondroplasia [Disease:1500689] cancer [Disease:1493885] bladder carcinoma [Disease:1614388] multiple myeloma
displayName	FGFR3 G380R [plasma membrane]
endCoordinate	806
hasModifiedResidue	[ReplacedResidue:1614397] glycine 380 replaced with L-arginine
inDisease	true
literatureReference	[LiteratureReference:1637852] Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia [LiteratureReference:1637853] Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders [LiteratureReference:2032936] The G1138A mutation rate in the fibroblast growth factor receptor 3 (FGFR3) gene is increased in cells carrying the t (4; 14) translocation
maxDepth	1
memberOf	[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] - Homo sapiens [CandidateSet:R-HSA-2038374] FGFR3 (4;14) translocation mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:8865004] Rothfels, Karen, 2016-03-17
name	FGFR3 G380R
referenceEntity	[ReferenceGeneProduct:uniprot:P22607] UniProt:P22607 FGFR3
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1614398
startCoordinate	23
updateTrackers	[UpdateTracker:9890979] Update Tracker - [EntityWithAccessionedSequence:1614398] FGFR3 G380R [plasma membrane] - v52:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9890979] Update Tracker - [EntityWithAccessionedSequence:1614398] FGFR3 G380R [plasma membrane] - v52:[modifyName]
(hasMember)	[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] [CandidateSet:R-HSA-2038374] FGFR3 (4;14) translocation mutants [plasma membrane]
(hasComponent)	[Complex:R-HSA-2033337] FGFR3 G380R mutant dimer [plasma membrane]