Reactome | PALB2 N1039Ifs*2 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704817] Orlic-Milacic, Marija, 2020-10-14
crossReference	[DatabaseIdentifier:9726042] LOVD:0000750069 [DatabaseIdentifier:9726039] LOVD:0000754843 [DatabaseIdentifier:9726023] LOVD:0000044633 [DatabaseIdentifier:9726028] LOVD:0000079941 [DatabaseIdentifier:9726041] LOVD:0000079942 [DatabaseIdentifier:9726026] LOVD:0000079943 [DatabaseIdentifier:9725990] LOVD:0000079944 [DatabaseIdentifier:9726044] LOVD:0000080394 [DatabaseIdentifier:9726001] LOVD:0000080469 [DatabaseIdentifier:9726021] LOVD:0000081478
dbId	9704821
disease	[Disease:9704435] Fanconi anemia [Disease:1500576] breast cancer [Disease:1500689] cancer
displayName	PALB2 N1039Ifs*2 [nucleoplasm]
endCoordinate	1039
hasModifiedResidue	[FragmentReplacedModification:9704815] Replacement of residues 1039 to 1039 by I
inDisease	true
literatureReference	[LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer [LiteratureReference:9704791] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
modified	[InstanceEdit:9726054] Orlic-Milacic, Marija, 2021-04-01
name	PALB2 N1039Ifs2 PALB2 Asn1039Ilefs2
referenceEntity	[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9704821
startCoordinate	1

(hasCandidate)

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