Reactome | NICD1 P2514Rfs*4 [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:2769005] Orlic-Milacic, M, 2012-12-10
crossReference	[DatabaseIdentifier:12020841] Mondo:0004963 [DatabaseIdentifier:2220871] COSMIC:COSV53024776 [DatabaseIdentifier:2220869] COSMIC:COSM33946
dbId	2768996
disease	[Disease:1485587] T-cell acute lymphoblastic leukemia [Disease:1500689] cancer
displayName	NICD1 P2514Rfs*4 [cytosol]
endCoordinate	2516
hasModifiedResidue	[FragmentReplacedModification:9827803] Replacement of residues 2514 to 2516 by RVP
inDisease	true
literatureReference	[LiteratureReference:1485609] Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia
maxDepth	1
memberOf	[DefinedSet:R-HSA-2220987] NICD1 PEST Domain Mutants [cytosol] - Homo sapiens
modified	[InstanceEdit:9827806] Orlic-Milacic, Marija, 2023-02-06
name	NICD1 P2514Rfs4 NICD1 Pro2514Argfs4 NICD1 PEST domain mutant P2514Rfs*4
referenceEntity	[ReferenceGeneProduct:uniprot:P46531] UniProt:P46531 NOTCH1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2768996
startCoordinate	1754
updateTrackers	[UpdateTracker:9904730] Update Tracker - [EntityWithAccessionedSequence:2768996] NICD1 P2514Rfs*4 [cytosol] - v84:[add_removeHasModifiedResidue]

(updatedInstance)	[UpdateTracker:9904730] Update Tracker - [EntityWithAccessionedSequence:2768996] NICD1 P2514Rfs*4 [cytosol] - v84:[add_removeHasModifiedResidue]
(hasMember)	[DefinedSet:R-HSA-2220987] NICD1 PEST Domain Mutants [cytosol]

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