Reactome | BRCA1 E572* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9702088] BRCA1 mutants (PALB2 binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9702451] Orlic-Milacic, Marija, 2020-09-30
crossReference	[DatabaseIdentifier:12021374] Mondo:0002169 [DatabaseIdentifier:9702454] COSMIC:COSV58789484
dbId	9702444
disease	[Disease:1500689] cancer [Disease:9675977] rectum adenocarcinoma
displayName	BRCA1 E572* [nucleoplasm]
endCoordinate	571
hasModifiedResidue	[NonsenseMutation:9702177] Nonsense mutation at L-glutamic acid 572
inDisease	true
maxDepth	1
modified	[InstanceEdit:9702670] Orlic-Milacic, Marija, 2020-10-01
name	BRCA1 E572* BRCA1 Glu572* BRCA1 E572TER BRCA1 Glu572TER
referenceEntity	[ReferenceGeneProduct:uniprot:P38398] UniProt:P38398 BRCA1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9702444
startCoordinate	1

(hasCandidate)

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