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Details on Person FGFR3 K650T [plasma membrane]

Class:Id	EntityWithAccessionedSequence:1614411
_displayName	FGFR3 K650T [plasma membrane]
_timestamp	2014-11-20 17:28:53
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:1614412] Rothfels, K, 2011-09-28
crossReference	[DatabaseIdentifier:2032967] COSMIC:COSV53394867
disease	[Disease:2032940] bone development disease [Disease:1625207] hypochondroplasia [Disease:1500689] cancer [Disease:1493885] bladder carcinoma [Disease:2032943] testicular cancer
endCoordinate	806
hasModifiedResidue	[ReplacedResidue:1614413] L-lysine 650 replaced with L-threonine
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
modified	[InstanceEdit:1637858] Rothfels, K, 2011-10-05 [InstanceEdit:2018711] Rothfels, K, 2011-11-24 [InstanceEdit:2032979] Rothfels, K, 2012-01-08 [InstanceEdit:5649567] Rothfels, Karen, 2014-11-20
name	FGFR3 K650T
referenceEntity	[ReferenceGeneProduct:403340] UniProt:P22607 FGFR3 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2298338] R-HSA-1614411.1
startCoordinate	23
(hasComponent)	[Complex:2033328] FGFR3 K650T mutant dimer [plasma membrane] [Homo sapiens]
(hasMember)	[CandidateSet:2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9890234] Update Tracker - [EntityWithAccessionedSequence:1614411] FGFR3 K650T [plasma membrane] - v52:[modifyName]
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No pathways have been reviewed or authored by FGFR3 K650T [plasma membrane] (1614411)