Reactome | BRCA1 E1112* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9702088] BRCA1 mutants (PALB2 binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9702414] Orlic-Milacic, Marija, 2020-09-30
crossReference	[DatabaseIdentifier:12021403] Mondo:0005211 [DatabaseIdentifier:9702418] COSMIC:COSV104398344
dbId	9702417
disease	[Disease:1500689] cancer [Disease:9660684] ovary serous adenocarcinoma
displayName	BRCA1 E1112* [nucleoplasm]
endCoordinate	1111
hasModifiedResidue	[NonsenseMutation:9702150] Nonsense mutation at L-glutamic acid 1112
inDisease	true
maxDepth	1
modified	[InstanceEdit:9702670] Orlic-Milacic, Marija, 2020-10-01
name	BRCA1 E1112* BRCA1 Glu1112* BRCA1 E1112TER BRCA1 Glu1112TER
referenceEntity	[ReferenceGeneProduct:uniprot:P38398] UniProt:P38398 BRCA1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9702417
startCoordinate	1

(hasCandidate)

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