Reactome | FGFR2c P253R [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2011943] FGFR2c P253R mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1637913] Rothfels, K, 2011-10-05
crossReference	[DatabaseIdentifier:2023340] COSMIC:COSV60644274
dbId	1637916
disease	[Disease:1614674] female reproductive endometrioid cancer [Disease:2011822] acrocephalosyndactylia [Disease:2032940] bone development disease [Disease:1500689] cancer
displayName	FGFR2c P253R [plasma membrane]
endCoordinate	821
hasModifiedResidue	[ReplacedResidue:1637915] L-proline 253 replaced with L-arginine
inDisease	true
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
memberOf	[CandidateSet:R-HSA-2033375] FGFR2c mutants with enhanced ligand binding [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649554] Rothfels, Karen, 2014-11-20
name	FGFR2c P253R FGFR2-1 P253R
referenceEntity	[ReferenceIsoform:54816] UniProt:P21802-1 FGFR2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1637916
startCoordinate	22
summation	[Summation:1637914] also Apert

(hasMember)	[CandidateSet:R-HSA-2033375] FGFR2c mutants with enhanced ligand binding [plasma membrane]
(hasComponent)	[Complex:R-HSA-2011943] FGFR2c P253R mutant dimer [plasma membrane]

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