Reactome | ATRX R250* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9671639] Orlic-Milacic, Marija, 2019-12-19
crossReference	[DatabaseIdentifier:12021420] Mondo:0006142 [DatabaseIdentifier:9671651] COSMIC:COSV64873935
dbId	9671634
disease	[Disease:1500689] cancer [Disease:9671649] retroperitoneal neuroblastoma [Disease:9671654] cervix small cell carcinoma [Disease:9659319] islet cell tumor [Disease:6802273] skin melanoma [Disease:2328001] skin squamous cell carcinoma [Disease:2317423] histiocytoma
displayName	ATRX R250* [nucleoplasm]
endCoordinate	249
hasModifiedResidue	[NonsenseMutation:9671635] Nonsense mutation at L-arginine 250
inDisease	true
literatureReference	[LiteratureReference:9671773] A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein
maxDepth	1
memberOf	[CandidateSet:R-HSA-9670618] ATRX truncation mutants (DAXX binding region) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9672763] Orlic-Milacic, Marija, 2020-01-02
name	ATRX R250* ATRX Arg250* ATRX R250TER ATRX Arg250TER
referenceEntity	[ReferenceGeneProduct:uniprot:P46100] UniProt:P46100 ATRX
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9671634
startCoordinate	1

(hasMember)

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