Reactome | BRCA1 A224Gfs*4 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9702088] BRCA1 mutants (PALB2 binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9703487] Orlic-Milacic, Marija, 2020-10-06
crossReference	[DatabaseIdentifier:12021298] Mondo:0005590 [DatabaseIdentifier:9703485] COSMIC:COSV58796953
dbId	9703490
disease	[Disease:1500689] cancer [Disease:9669011] breast ductal carcinoma
displayName	BRCA1 A224Gfs*4 [nucleoplasm]
endCoordinate	226
hasModifiedResidue	[FragmentReplacedModification:9703138] Replacement of residues 224 to 226 by GCL
inDisease	true
maxDepth	1
name	BRCA1 A224Gfs4 BRCA1 Ala224Glyfs4 BRCA1 A224GfsTER4 BRCA1 Ala224GlyfsTER4
referenceEntity	[ReferenceGeneProduct:uniprot:P38398] UniProt:P38398 BRCA1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9703490
startCoordinate	1

(hasCandidate)

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