Reactome | PALB2 Y551* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704438] Orlic-Milacic, Marija, 2020-10-09
crossReference	[DatabaseIdentifier:12021449] Mondo:0019391 [DatabaseIdentifier:9704436] COSMIC:COSV99848303
dbId	9704437
disease	[Disease:1500689] cancer [Disease:9704435] Fanconi anemia [Disease:1655483] renal clear cell carcinoma
displayName	PALB2 Y551* [nucleoplasm]
endCoordinate	550
hasModifiedResidue	[NonsenseMutation:9704434] Nonsense mutation at L-tyrosine 551
inDisease	true
literatureReference	[LiteratureReference:5685831] Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair [LiteratureReference:9704762] Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
maxDepth	1
memberOf	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9704767] Orlic-Milacic, Marija, 2020-10-13
name	PALB2 Y551* PALB2 Tyr551* PALB2 Y551TER PALB2 Tyr551TER
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9704437
startCoordinate	1

(hasMember)

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