Reactome | ATRX E643* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9670618] ATRX truncation mutants (DAXX binding region) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9670951] Orlic-Milacic, Marija, 2019-12-17
crossReference	[DatabaseIdentifier:12020745] Mondo:0004992 [DatabaseIdentifier:9670994] COSMIC:COSV64877074
dbId	9670952
disease	[Disease:1500689] cancer
displayName	ATRX E643* [nucleoplasm]
endCoordinate	642
hasModifiedResidue	[NonsenseMutation:9670967] Nonsense mutation at L-glutamic acid 643
inDisease	true
maxDepth	1
modified	[InstanceEdit:9670997] Orlic-Milacic, Marija, 2019-12-17
name	ATRX E643* ATRX Glu643* ATRX E643TER ATRX Glu643TER
referenceEntity	[ReferenceGeneProduct:uniprot:P46100] UniProt:P46100 ATRX
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9670952
startCoordinate	1

(hasCandidate)

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