Reactome | BRCA1 E1258* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9702088] BRCA1 mutants (PALB2 binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9702428] Orlic-Milacic, Marija, 2020-09-30
crossReference	[DatabaseIdentifier:12021315] Mondo:0005184 [DatabaseIdentifier:9702423] COSMIC:COSV58792023
dbId	9702430
disease	[Disease:1500689] cancer [Disease:9630864] pancreatic ductal adenocarcinoma
displayName	BRCA1 E1258* [nucleoplasm]
endCoordinate	1257
hasModifiedResidue	[NonsenseMutation:9702205] Nonsense mutation at L-glutamic acid 1258
inDisease	true
maxDepth	1
modified	[InstanceEdit:9702670] Orlic-Milacic, Marija, 2020-10-01
name	BRCA1 E1258* BRCA1 Glu1258* BRCA1 E1258TER BRCA1 Glu1258TER
referenceEntity	[ReferenceGeneProduct:uniprot:P38398] UniProt:P38398 BRCA1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9702430
startCoordinate	1

(hasCandidate)

Cite Us!