Reactome | ATRX K1052* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9670618] ATRX truncation mutants (DAXX binding region) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9671680] Orlic-Milacic, Marija, 2019-12-19
crossReference	[DatabaseIdentifier:12021413] Mondo:0016982 [DatabaseIdentifier:9671715] COSMIC:COSV64873492
dbId	9671656
disease	[Disease:1500689] cancer [Disease:9671725] angiosarcoma
displayName	ATRX K1052* [nucleoplasm]
endCoordinate	1051
hasModifiedResidue	[NonsenseMutation:9671676] Nonsense mutation at L-lysine 1052
inDisease	true
maxDepth	1
modified	[InstanceEdit:9671730] Orlic-Milacic, Marija, 2019-12-19
name	ATRX K1052* ATRX Lys1052* ATRX K1052TER ATRX Lys1052TER
referenceEntity	[ReferenceGeneProduct:uniprot:P46100] UniProt:P46100 ATRX
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9671656
startCoordinate	1

(hasCandidate)

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