Reactome | BRCA1 Q202* [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:12021100] Mondo:0005012 [DatabaseIdentifier:9702707] COSMIC:COSV58783369
dbId	9702709
disease	[Disease:1500689] cancer [Disease:6802273] skin melanoma
displayName	BRCA1 Q202* [nucleoplasm]
endCoordinate	201
hasModifiedResidue	[NonsenseMutation:9702185] Nonsense mutation at L-glutamine 202
inDisease	true
maxDepth	1
name	BRCA1 Q202* BRCA1 Gln202* BRCA1 Q202TER BRCA1 Gln202TER
referenceEntity	[ReferenceGeneProduct:uniprot:P38398] UniProt:P38398 BRCA1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9702709
startCoordinate	1

(hasCandidate)

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