Reactome | FGFR1c P252X mutants [plasma membrane]

Schema > DefinedSet > Entries

FGFR1c P252X mutants [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
consumedByEvent	[Reaction:R-HSA-2023451] FGFR1c P252X mutants bind ligand with enhanced affinity - Homo sapiens [Reaction:R-HSA-2023451] FGFR1c P252X mutants bind ligand with enhanced affinity - Homo sapiens
created	[InstanceEdit:2012031] Rothfels, K, 2011-11-22
crossReference	[DatabaseIdentifier:12020828] Mondo:0005497
dbId	2012029
disease	[Disease:1500689] cancer [Disease:1500699] lung cancer [Disease:1614289] melanoma [Disease:2011836] Pfeiffer syndrome [Disease:2032940] bone development disease
displayName	FGFR1c P252X mutants [plasma membrane]
hasMember	[EntityWithAccessionedSequence:R-HSA-1614383] FGFR1c P252S [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1614386] FGFR1c P252T [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2011838] FGFR1c P252R [plasma membrane] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:2011820] Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity [LiteratureReference:1614268] Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines [LiteratureReference:1614272] Somatic mutations of the protein kinase gene family in human lung cancer
maxDepth	2
modified	[InstanceEdit:9036004] Rothfels, Karen, 2018-01-26
name	FGFR1c P252X mutants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-2012029
updateTrackers	[UpdateTracker:9898567] Update Tracker - [DefinedSet:2012029] FGFR1c P252X mutants [plasma membrane] - v64:[modifyName, updateContainedMemberOrCandidate]

Referrals

(updatedInstance)	[UpdateTracker:9898567] Update Tracker - [DefinedSet:2012029] FGFR1c P252X mutants [plasma membrane] - v64:[modifyName, updateContainedMemberOrCandidate]
(input)	[Reaction:R-HSA-2023451] FGFR1c P252X mutants bind ligand with enhanced affinity
(diseaseEntity)	[EntityFunctionalStatus:5654502] gain_of_function of FGFR1c P252X mutants [plasma membrane]

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