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Details on Person p-8Y-FGFR2c S252W [plasma membrane]

Class:Id	EntityWithAccessionedSequence:2011879
_displayName	p-8Y-FGFR2c S252W [plasma membrane]
_timestamp	2014-11-20 17:35:03
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:2011878] Rothfels, K, 2011-11-22
disease	[Disease:2011822] acrocephalosyndactylia [Disease:2011847] craniosynostosis [Disease:1500689] cancer [Disease:1614674] female reproductive endometrioid cancer [Disease:1500575] ovarian cancer
endCoordinate	821
hasModifiedResidue	[ModifiedResidue:1307864] O4'-phospho-L-tyrosine at 466 [ModifiedResidue:1307872] O4'-phospho-L-tyrosine at 586 [ModifiedResidue:1307873] O4'-phospho-L-tyrosine at 588 [ModifiedResidue:1307882] O4'-phospho-L-tyrosine at 656 [ModifiedResidue:1307883] O4'-phospho-L-tyrosine at 657 [ModifiedResidue:1307889] O4'-phospho-L-tyrosine at 733 [ModifiedResidue:1307900] O4'-phospho-L-tyrosine at 769 [ModifiedResidue:1307907] O4'-phospho-L-tyrosine at 779 [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:2029888] Rothfels, K, 2012-01-05 [InstanceEdit:2033292] Rothfels, K, 2012-01-09 [InstanceEdit:2071963] Rothfels, K, 2012-01-26 [InstanceEdit:3612887] Jupe, S, 2013-05-23 [InstanceEdit:3622480] Rothfels, K, 2013-05-24 [InstanceEdit:5649623] Rothfels, Karen, 2014-11-20
name	p-8Y-FGFR2c S252W p-8Y-FGFR2-1 S252W
referenceEntity	[ReferenceIsoform:54816] UniProt:P21802-1 FGFR2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2297472] R-HSA-2011879.1
startCoordinate	22
summation	[Summation:1637914] also Apert
(hasComponent)	[Complex:2011964] p-8Y-FGFR2c S252W dimer [plasma membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9881831] Update Tracker - [EntityWithAccessionedSequence:2011879] p-8Y-FGFR2c S252W [plasma membrane] - v45:[addName] [_UpdateTracker:9890395] Update Tracker - [EntityWithAccessionedSequence:2011879] p-8Y-FGFR2c S252W [plasma membrane] - v52:[modifyName]
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No pathways have been reviewed or authored by p-8Y-FGFR2c S252W [plasma membrane] (2011879)