Reactome | PALB2 Y1108Sfs*16 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9724645] Orlic-Milacic, Marija, 2021-03-25
crossReference	[DatabaseIdentifier:12020748] Mondo:0007254 [DatabaseIdentifier:9726002] LOVD:0000044640 [DatabaseIdentifier:9726030] LOVD:0000080255 [DatabaseIdentifier:9726000] LOVD:0000080392 [DatabaseIdentifier:9725998] LOVD:0000080471 [DatabaseIdentifier:9726029] LOVD:0000081479 [DatabaseIdentifier:9725986] LOVD:0000695164
dbId	9724644
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer
displayName	PALB2 Y1108Sfs*16 [nucleoplasm]
endCoordinate	1122
hasModifiedResidue	[FragmentReplacedModification:9724646] Replacement of residues 1108 to 1122 by SVFLQGRLAGSWKVT
inDisease	true
literatureReference	[LiteratureReference:9724157] Functional characterization of 84 PALB2 variants of uncertain significance
maxDepth	1
modified	[InstanceEdit:9726054] Orlic-Milacic, Marija, 2021-04-01
name	PALB2 Y1108Sfs*16
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9724644
startCoordinate	1

(hasCandidate)

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