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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
FGFR3 R248C [plasma membrane]
Show undefined attributes
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compartment
[Compartment:876] plasma membrane
componentOf
[Complex:R-HSA-2011948] FGFR3 R248C mutant dimer [plasma membrane] - Homo sapiens
[Complex:R-HSA-2011948] FGFR3 R248C mutant dimer [plasma membrane] - Homo sapiens
created
[InstanceEdit:1614417] Rothfels, K, 2011年09月28日
crossReference
[DatabaseIdentifier:11945428] Mondo:0017042
[DatabaseIdentifier:11944971] Mondo:0005497
[DatabaseIdentifier:11944942] Mondo:0009693
[DatabaseIdentifier:11945164] Mondo:0004986
[DatabaseIdentifier:11944894] Mondo:0010150
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:2033284] COSMIC:COSV53390662
[DatabaseIdentifier:2033286] COSMIC:COSM35896
dbId
1614419
disease
[Disease:1493885] bladder carcinoma
[Disease:1614388] multiple myeloma
[Disease:1625209] thanatophoric dysplasia
[Disease:1248679] head and neck squamous cell carcinoma
[Disease:2032940] bone development disease
[Disease:1500689] cancer
displayName
FGFR3 R248C [plasma membrane]
endCoordinate
806
hasModifiedResidue
[ReplacedResidue:1614418] L-arginine 248 replaced with L-cysteine
inDisease
true
literatureReference
[LiteratureReference:2045073] Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
[LiteratureReference:2064376] Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
[LiteratureReference:1226112] Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas
[LiteratureReference:2064365] Identification of novel fibroblast growth factor receptor 3 gene mutations in actinic cheilitis and squamous cell carcinoma of the lip
[LiteratureReference:2064362] Novel mutation and RNA splice variant of fibroblast growth factor receptor 3 in multiple myeloma patients at diagnosis
[LiteratureReference:2064378] Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14)
[LiteratureReference:2054054] Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
maxDepth
1
memberOf
[DefinedSet:R-HSA-2012043] FGFR3 cysteine mutants [plasma membrane] - Homo sapiens
modified
[InstanceEdit:5649568] Rothfels, Karen, 2014年11月20日
name
FGFR3 R248C
referenceEntity
[ReferenceGeneProduct:uniprot:P22607] UniProt:P22607 FGFR3
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-1614419
startCoordinate
23
updateTrackers
[UpdateTracker:9891363] Update Tracker - [EntityWithAccessionedSequence:1614419] FGFR3 R248C [plasma membrane] - v52:[modifyName]
Referrals
(updatedInstance)
[UpdateTracker:9891363] Update Tracker - [EntityWithAccessionedSequence:1614419] FGFR3 R248C [plasma membrane] - v52:[modifyName]
(hasMember)
[DefinedSet:R-HSA-2012043] FGFR3 cysteine mutants [plasma membrane]
[CandidateSet:R-HSA-2038374] FGFR3 (4;14) translocation mutants [plasma membrane]
(hasComponent)
[Complex:R-HSA-2011948] FGFR3 R248C mutant dimer [plasma membrane]
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