Reactome | PALB2 L531Cfs*30 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704441] Orlic-Milacic, Marija, 2020-10-09
crossReference	[DatabaseIdentifier:12021099] Mondo:0008315 [DatabaseIdentifier:9726008] LOVD:0000750072 [DatabaseIdentifier:9726006] LOVD:0000754846 [DatabaseIdentifier:9726024] LOVD:0000079969 [DatabaseIdentifier:9726012] LOVD:0000079970 [DatabaseIdentifier:9726003] LOVD:0000079971 [DatabaseIdentifier:9726038] LOVD:0000079972 [DatabaseIdentifier:9726020] LOVD:0000080168 [DatabaseIdentifier:9726031] LOVD:0000080450 [DatabaseIdentifier:9726016] LOVD:0000695019
dbId	9704442
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer [Disease:1655499] prostate cancer
displayName	PALB2 L531Cfs*30 [nucleoplasm]
endCoordinate	559
hasModifiedResidue	[FragmentReplacedModification:9704443] Replacement of residues 531 to 559 by CQLLACRLLTGPRKKSPHTNISTKNYLFK
inDisease	true
literatureReference	[LiteratureReference:9704369] A recurrent mutation in PALB2 in Finnish cancer families
maxDepth	1
memberOf	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9726054] Orlic-Milacic, Marija, 2021-04-01
name	PALB2 L531Cfs30 PALB2 Leu531Cysfs30* PALB2 L531CfsTER30 PALB2 Leu531CysfsTER30
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9704442
startCoordinate	1

(hasMember)

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