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Query author contributions in Reactome

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Details on Person FGFR3 R248C [plasma membrane]

Class:IdEntityWithAccessionedSequence:1614419
_displayNameFGFR3 R248C [plasma membrane]
_timestamp2014-11-20 17:28:58
compartment[Compartment:876] plasma membrane
created[InstanceEdit:1614417] Rothfels, K, 2011-09-28
crossReference[DatabaseIdentifier:2033284] COSMIC:COSV53390662
[DatabaseIdentifier:2033286] COSMIC:COSM35896
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
endCoordinate806
hasModifiedResidue[ReplacedResidue:1614418] L-arginine 248 replaced with L-cysteine
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
modified[InstanceEdit:1637859] Rothfels, K, 2011-10-05
[InstanceEdit:2011823] Rothfels, K, 2011-11-22
[InstanceEdit:2023370] Rothfels, K, 2011-12-07
[InstanceEdit:2033285] Rothfels, K, 2012-01-09
[InstanceEdit:2064389] Rothfels, K, 2012-01-18
[InstanceEdit:5649568] Rothfels, Karen, 2014-11-20
nameFGFR3 R248C
referenceEntity[ReferenceGeneProduct:403340] UniProt:P22607 FGFR3 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:2298106] R-HSA-1614419.1
startCoordinate23
(hasComponent)[Complex:2011948] FGFR3 R248C mutant dimer [plasma membrane] [Homo sapiens]
(hasMember)[DefinedSet:2012043] FGFR3 cysteine mutants [plasma membrane] [Homo sapiens]
[CandidateSet:2038374] FGFR3 (4;14) translocation mutants [plasma membrane] [Homo sapiens]
(updatedInstance)[_UpdateTracker:9891363] Update Tracker - [EntityWithAccessionedSequence:1614419] FGFR3 R248C [plasma membrane] - v52:[modifyName]
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No pathways have been reviewed or authored by FGFR3 R248C [plasma membrane] (1614419)
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