Reactome | NF1 C845Vfs*33 [cytosol]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-6802562] NF1 GTPase mutants [cytosol] - Homo sapiens
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9647485] Rothfels, Karen, 2019-05-31
crossReference	[DatabaseIdentifier:12021107] Mondo:0000448 [DatabaseIdentifier:9831731] COSMIC:COSV62196244
dbId	9647486
disease	[Disease:9647470] paraganglioma [Disease:9647471] pheochromocytoma
displayName	NF1 C845Vfs*33 [cytosol]
endCoordinate	876
hasModifiedResidue	[FragmentReplacedModification:9831730] Replacement of residues 845 to 876 by VPLGECASSREAILAWQPIAHPWVQSVNVRVL
inDisease	true
literatureReference	[LiteratureReference:9647154] Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma
maxDepth	1
modified	[InstanceEdit:9831732] Orlic-Milacic, Marija, 2023-03-24
name	NF1 C845Vfs*33
referenceEntity	[ReferenceGeneProduct:uniprot:P21359] UniProt:P21359 NF1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9647486
startCoordinate	2
updateTrackers	[UpdateTracker:9905560] Update Tracker - [EntityWithAccessionedSequence:9647486] NF1 C845Vfs*33 [cytosol] - v85:[addHasModifiedResidue, modifyEndCoordinate, modifyName]

(updatedInstance)	[UpdateTracker:9905560] Update Tracker - [EntityWithAccessionedSequence:9647486] NF1 C845Vfs*33 [cytosol] - v85:[addHasModifiedResidue, modifyEndCoordinate, modifyName]
(hasCandidate)	[CandidateSet:R-HSA-6802562] NF1 GTPase mutants [cytosol]

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