Reactome | NEXT1 Q2395* [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:2902197] Orlic-Milacic, M, 2013-01-03
crossReference	[DatabaseIdentifier:12020841] Mondo:0004963 [DatabaseIdentifier:2220934] COSMIC:COSV53056886
dbId	2902192
disease	[Disease:1485587] T-cell acute lymphoblastic leukemia [Disease:1500689] cancer
displayName	NEXT1 Q2395* [plasma membrane]
endCoordinate	2394
hasModifiedResidue	[NonsenseMutation:5640165] Nonsense mutation at L-glutamine 2395
inDisease	true
literatureReference	[LiteratureReference:1485609] Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia
maxDepth	1
memberOf	[DefinedSet:R-HSA-2289143] NEXT1 PEST domain mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5640169] Orlic-Milacic, Marija, 2014-11-16
name	NEXT1 Q2395* NEXT1 Gln2395*
referenceEntity	[ReferenceGeneProduct:uniprot:P46531] UniProt:P46531 NOTCH1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2902192
startCoordinate	1721

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