Reactome | BRCA1 E673* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9702088] BRCA1 mutants (PALB2 binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9702540] Orlic-Milacic, Marija, 2020-09-30
crossReference	[DatabaseIdentifier:12021425] Mondo:0002447 [DatabaseIdentifier:9702539] COSMIC:COSV58792690
dbId	9702533
disease	[Disease:1500689] cancer [Disease:9701263] endometrial carcinoma
displayName	BRCA1 E673* [nucleoplasm]
endCoordinate	672
hasModifiedResidue	[NonsenseMutation:9702191] Nonsense mutation at L-glutamic acid 673
inDisease	true
maxDepth	1
modified	[InstanceEdit:9702670] Orlic-Milacic, Marija, 2020-10-01
name	BRCA1 E673* BRCA1 Glu673* BRCA1 E673TER BRCA1 Glu673TER
referenceEntity	[ReferenceGeneProduct:uniprot:P38398] UniProt:P38398 BRCA1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9702533
startCoordinate	1

(hasCandidate)

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