Reactome | FGFR2 L764Hfs*4 [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2071927] FGFR2 L764fs*4STOP mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1637909] Rothfels, K, 2011-10-05
crossReference	[DatabaseIdentifier:9831781] COSMIC:COSV60644466
dbId	1637908
disease	[Disease:1614674] female reproductive endometrioid cancer [Disease:1500689] cancer
displayName	FGFR2 L764Hfs*4 [plasma membrane]
endCoordinate	766
hasModifiedResidue	[FragmentReplacedModification:9831783] Replacement of residues 764 to 766 by HNQ
inDisease	true
literatureReference	[LiteratureReference:1637891] Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes [LiteratureReference:2023835] Ligand-independent activation of fibroblast growth factor receptor-2 by carboxyl terminal alterations
modified	[InstanceEdit:9831785] Orlic-Milacic, Marija, 2023-03-24
name	FGFR2 L764Hfs*4
referenceEntity	[ReferenceGeneProduct:403305] UniProt:P21802 FGFR2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1637908
startCoordinate	22

(hasComponent)	[Complex:R-HSA-2071927] FGFR2 L764fs*4STOP mutant dimer [plasma membrane]
(hasCandidate)	[CandidateSet:R-HSA-2029955] FGFR2 ligand-independent mutants [plasma membrane]

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