Reactome | FGFR2b Y376C [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2029924] FGFR2b Y376C mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1637930] Rothfels, K, 2011-10-05
crossReference	[DatabaseIdentifier:2033273] COSMIC:COSV60640350 [DatabaseIdentifier:2033274] COSMIC:COSM41290
dbId	1637931
disease	[Disease:1614674] female reproductive endometrioid cancer [Disease:1500575] ovarian cancer [Disease:1500689] cancer
displayName	FGFR2b Y376C [plasma membrane]
endCoordinate	822
hasModifiedResidue	[ReplacedResidue:1637932] L-tyrosine 376 replaced with L-cysteine
inDisease	true
literatureReference	[LiteratureReference:1637891] Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes [LiteratureReference:2029807] FGFR2 mutations are rare across histologic subtypes of ovarian cancer [LiteratureReference:1637882] Drug-sensitive FGFR2 mutations in endometrial carcinoma
modified	[InstanceEdit:5649540] Rothfels, Karen, 2014-11-20
name	FGFR2b Y376C FGFR2-3 Y376C mutant
referenceEntity	[ReferenceIsoform:147298] UniProt:P21802-3 FGFR2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1637931
startCoordinate	22

(hasComponent)	[Complex:R-HSA-2029924] FGFR2b Y376C mutant dimer [plasma membrane]
(hasCandidate)	[CandidateSet:R-HSA-2029955] FGFR2 ligand-independent mutants [plasma membrane]

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