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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
FGFR3 A391E [plasma membrane]
Show undefined attributes
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candidateOf
[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] - Homo sapiens
compartment
[Compartment:876] plasma membrane
componentOf
[Complex:R-HSA-2065831] FGFR3 A319E mutant dimer [plasma membrane] - Homo sapiens
[Complex:R-HSA-2065831] FGFR3 A319E mutant dimer [plasma membrane] - Homo sapiens
created
[InstanceEdit:1614392] Rothfels, K, 2011年09月28日
crossReference
[DatabaseIdentifier:11945425] Mondo:0007405
[DatabaseIdentifier:11944971] Mondo:0005497
[DatabaseIdentifier:11945164] Mondo:0004986
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:2065818] COSMIC:COSV53391630
dbId
1614390
disease
[Disease:1493885] bladder carcinoma
[Disease:1625203] Crouzon syndrome
[Disease:2032940] bone development disease
[Disease:1500689] cancer
displayName
FGFR3 A391E [plasma membrane]
endCoordinate
806
hasModifiedResidue
[ReplacedResidue:1614391] L-alanine 391 replaced with L-glutamic acid
inDisease
true
literatureReference
[LiteratureReference:2065829] FGFR3 dimer stabilization due to a single amino acid pathogenic mutation
[LiteratureReference:1637853] Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
[LiteratureReference:2065827] Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
maxDepth
1
modified
[InstanceEdit:5649559] Rothfels, Karen, 2014年11月20日
name
FGFR3 A391E
referenceEntity
[ReferenceGeneProduct:uniprot:P22607] UniProt:P22607 FGFR3
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-1614390
startCoordinate
23
updateTrackers
[UpdateTracker:9889961] Update Tracker - [EntityWithAccessionedSequence:1614390] FGFR3 A391E [plasma membrane] - v52:[modifyName]
Referrals
(updatedInstance)
[UpdateTracker:9889961] Update Tracker - [EntityWithAccessionedSequence:1614390] FGFR3 A391E [plasma membrane] - v52:[modifyName]
(hasCandidate)
[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane]
(hasComponent)
[Complex:R-HSA-2065831] FGFR3 A319E mutant dimer [plasma membrane]
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