Reactome | FGFR3 K650E [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR3 K650E [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2033332] FGFR3 K650E mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1614399] Rothfels, K, 2011-09-28
crossReference	[DatabaseIdentifier:2032954] COSMIC:COSV53390625 [DatabaseIdentifier:2032953] COSMIC:COSM35899
dbId	1614400
disease	[Disease:2032940] bone development disease [Disease:1625209] thanatophoric dysplasia [Disease:1500689] cancer [Disease:1493885] bladder carcinoma [Disease:1614388] multiple myeloma [Disease:2032943] testicular cancer
displayName	FGFR3 K650E [plasma membrane]
endCoordinate	806
hasModifiedResidue	[ReplacedResidue:1614401] L-lysine 650 replaced with L-glutamic acid
inDisease	true
literatureReference	[LiteratureReference:2018771] Patterns of somatic mutation in human cancer genomes [LiteratureReference:1226112] Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas [LiteratureReference:2032927] Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype [LiteratureReference:2032919] Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors [LiteratureReference:2032925] Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations [LiteratureReference:2032939] The myeloma-associated oncogene fibroblast growth factor receptor 3 is transforming in hematopoietic cells [LiteratureReference:1637849] Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma [LiteratureReference:2032916] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
memberOf	[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] - Homo sapiens [CandidateSet:R-HSA-2038374] FGFR3 (4;14) translocation mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649563] Rothfels, Karen, 2014-11-20
name	FGFR3 K650E
referenceEntity	[ReferenceGeneProduct:403340] UniProt:P22607 FGFR3
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1614400
startCoordinate	23

Referrals

(hasMember)	[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] [CandidateSet:R-HSA-2038374] FGFR3 (4;14) translocation mutants [plasma membrane]
(hasComponent)	[Complex:R-HSA-2033332] FGFR3 K650E mutant dimer [plasma membrane]

Cite Us!