Reactome | BARD1 C53W [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9700810] Orlic-Milacic, Marija, 2020-09-18
crossReference	[DatabaseIdentifier:12021432] Mondo:0003582 [DatabaseIdentifier:9700813] ClinGen:CA350462334
dbId	9700807
disease	[Disease:1500689] cancer [Disease:9700885] hereditary breast ovarian cancer syndrome
displayName	BARD1 C53W [nucleoplasm]
endCoordinate	777
hasModifiedResidue	[ReplacedResidue:9700812] L-cysteine 53 replaced with L-tryptophan
inDisease	true
literatureReference	[LiteratureReference:9699157] Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks
maxDepth	1
memberOf	[CandidateSet:R-HSA-9699130] BARD1 mutants (BRCA1 binding) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9700887] Orlic-Milacic, Marija, 2020-09-21
name	BARD1 C53W BARD1 Cys53Trp
referenceEntity	[ReferenceGeneProduct:uniprot:Q99728] UniProt:Q99728 BARD1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9700807
startCoordinate	1

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