Reactome | FGFR1c P252X mutants [plasma membrane]

Schema > DefinedSet > Entries

compartment	[Compartment:876] plasma membrane
consumedByEvent	[Reaction:R-HSA-2023451] FGFR1c P252X mutants bind ligand with enhanced affinity - Homo sapiens
created	[InstanceEdit:2012031] Rothfels, K, 2011-11-22
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
modified	[InstanceEdit:9036004] Rothfels, Karen, 2018-01-26
name	FGFR1c P252X mutants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-2012029

(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]