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Details on Person FGFR2c S252W [plasma membrane]

Class:Id	EntityWithAccessionedSequence:2011852
_displayName	FGFR2c S252W [plasma membrane]
_timestamp	2014-11-20 17:27:45
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:2011853] Rothfels, K, 2011-11-22
crossReference	[DatabaseIdentifier:2023337] COSMIC:COSM41289 [DatabaseIdentifier:2023336] COSMIC:COSV60638319
disease	[Disease:2011822] acrocephalosyndactylia [Disease:2011847] craniosynostosis [Disease:1614674] female reproductive endometrioid cancer [Disease:1500575] ovarian cancer [Disease:1500689] cancer [Disease:2032940] bone development disease
endCoordinate	821
hasModifiedResidue	[ReplacedResidue:2033281] L-serine 252 replaced with L-tryptophan
literatureReference	[LiteratureReference:1637882] Drug-sensitive FGFR2 mutations in endometrial carcinoma [LiteratureReference:1637876] Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome [LiteratureReference:2011820] Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity [LiteratureReference:2029807] FGFR2 mutations are rare across histologic subtypes of ovarian cancer
modified	[InstanceEdit:2023368] Rothfels, K, 2011-12-07 [InstanceEdit:2029894] Rothfels, K, 2012-01-05 [InstanceEdit:2033280] Rothfels, K, 2012-01-09 [InstanceEdit:3612887] Jupe, S, 2013-05-23 [InstanceEdit:5649555] Rothfels, Karen, 2014-11-20
name	FGFR2c S252W FGFR2-1 S252W mutant
referenceEntity	[ReferenceIsoform:54816] UniProt:P21802-1 FGFR2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2298497] R-HSA-2011852.1
startCoordinate	22
summation	[Summation:1637914] also Apert
(hasComponent)	[Complex:2011938] FGFR2c S252W mutant dimer [plasma membrane] [Homo sapiens]
(hasMember)	[CandidateSet:2033375] FGFR2c mutants with enhanced ligand binding [plasma membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9884377] Update Tracker - [EntityWithAccessionedSequence:2011852] FGFR2c S252W [plasma membrane] - v45:[addName] [_UpdateTracker:9891052] Update Tracker - [EntityWithAccessionedSequence:2011852] FGFR2c S252W [plasma membrane] - v52:[modifyName]
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No pathways have been reviewed or authored by FGFR2c S252W [plasma membrane] (2011852)