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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
FGFR2c S252W [plasma membrane]
Show undefined attributes
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compartment
[Compartment:876] plasma membrane
componentOf
[Complex:R-HSA-2011938] FGFR2c S252W mutant dimer [plasma membrane] - Homo sapiens
[Complex:R-HSA-2011938] FGFR2c S252W mutant dimer [plasma membrane] - Homo sapiens
created
[InstanceEdit:2011853] Rothfels, K, 2011年11月22日
crossReference
[DatabaseIdentifier:11944975] Mondo:0015469
[DatabaseIdentifier:11944974] Mondo:0019796
[DatabaseIdentifier:11944971] Mondo:0005497
[DatabaseIdentifier:11944956] Mondo:0002480
[DatabaseIdentifier:11944896] Mondo:0008170
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:2023337] COSMIC:COSM41289
[DatabaseIdentifier:2023336] COSMIC:COSV60638319
dbId
2011852
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
displayName
FGFR2c S252W [plasma membrane]
endCoordinate
821
hasModifiedResidue
[ReplacedResidue:2033281] L-serine 252 replaced with L-tryptophan
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
[LiteratureReference:2029807] FGFR2 mutations are rare across histologic subtypes of ovarian cancer
maxDepth
1
memberOf
[CandidateSet:R-HSA-2033375] FGFR2c mutants with enhanced ligand binding [plasma membrane] - Homo sapiens
modified
[InstanceEdit:5649555] Rothfels, Karen, 2014年11月20日
name
FGFR2c S252W
FGFR2-1 S252W mutant
referenceEntity
[ReferenceIsoform:uniprot:P21802-1] UniProt:P21802-1 FGFR2
referenceType
ReferenceIsoform
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-2011852
startCoordinate
22
summation
[Summation:1637914] also Apert
updateTrackers
[UpdateTracker:9884377] Update Tracker - [EntityWithAccessionedSequence:2011852] FGFR2c S252W [plasma membrane] - v45:[addName]
[UpdateTracker:9891052] Update Tracker - [EntityWithAccessionedSequence:2011852] FGFR2c S252W [plasma membrane] - v52:[modifyName]
Referrals
(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]
(hasMember)
[CandidateSet:R-HSA-2033375] FGFR2c mutants with enhanced ligand binding [plasma membrane]
(hasComponent)
[Complex:R-HSA-2011938] FGFR2c S252W mutant dimer [plasma membrane]
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