Reactome | BRCA1 C47G [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9700940] Orlic-Milacic, Marija, 2020-09-21
crossReference	[DatabaseIdentifier:12020748] Mondo:0007254
dbId	9700941
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer
displayName	BRCA1 C47G [nucleoplasm]
endCoordinate	1863
hasModifiedResidue	[ReplacedResidue:9700943] L-cysteine 47 replaced with glycine
inDisease	true
literatureReference	[LiteratureReference:9663191] Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination
maxDepth	1
memberOf	[CandidateSet:R-HSA-9663193] BRCA1 mutants (BARD1 binding) [nucleoplasm] - Homo sapiens
name	BRCA1 C47G BRCA1 Cys47Gly
referenceEntity	[ReferenceGeneProduct:uniprot:P38398] UniProt:P38398 BRCA1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9700941
startCoordinate	1

(hasMember)

Cite Us!