Reactome | FGFR3 K650T [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR3 K650T [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2033328] FGFR3 K650T mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1614412] Rothfels, K, 2011-09-28
crossReference	[DatabaseIdentifier:2032967] COSMIC:COSV53394867
dbId	1614411
disease	[Disease:2032940] bone development disease [Disease:1625207] hypochondroplasia [Disease:1500689] cancer [Disease:1493885] bladder carcinoma [Disease:2032943] testicular cancer
displayName	FGFR3 K650T [plasma membrane]
endCoordinate	806
hasModifiedResidue	[ReplacedResidue:1614413] L-lysine 650 replaced with L-threonine
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:1637853] Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders [LiteratureReference:2032919] Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
memberOf	[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649567] Rothfels, Karen, 2014-11-20
name	FGFR3 K650T
referenceEntity	[ReferenceGeneProduct:403340] UniProt:P22607 FGFR3
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1614411
startCoordinate	23

Referrals

(hasMember)	[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane]
(hasComponent)	[Complex:R-HSA-2033328] FGFR3 K650T mutant dimer [plasma membrane]