Reactome | BRCA1 Q1240* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9702088] BRCA1 mutants (PALB2 binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9702703] Orlic-Milacic, Marija, 2020-10-01
crossReference	[DatabaseIdentifier:12021319] Mondo:0006143 [DatabaseIdentifier:9702723] COSMIC:COSV100523463
dbId	9702708
disease	[Disease:1500689] cancer [Disease:9648487] lung small cell carcinoma [Disease:9631134] cervical squamous cell carcinoma
displayName	BRCA1 Q1240* [nucleoplasm]
endCoordinate	1239
hasModifiedResidue	[NonsenseMutation:9702160] Nonsense mutation at L-glutamine 1240
inDisease	true
maxDepth	1
name	BRCA1 Q1240* BRCA1 Gln1240* BRCA1 Q1240TER BRCA1 Gln1240TER
referenceEntity	[ReferenceGeneProduct:uniprot:P38398] UniProt:P38398 BRCA1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9702708
startCoordinate	1

(hasCandidate)

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