Reactome | PALB2 E545* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704494] Orlic-Milacic, Marija, 2020-10-09
crossReference	[DatabaseIdentifier:12020835] Mondo:0002271 [DatabaseIdentifier:9704857] COSMIC:COSV55167085 [DatabaseIdentifier:9725942] LOVD:0000080107 [DatabaseIdentifier:9725928] LOVD:0000080158 [DatabaseIdentifier:9725923] LOVD:0000438795 [DatabaseIdentifier:9725947] LOVD:0000615902 [DatabaseIdentifier:9725921] LOVD:0000748711
dbId	9704481
disease	[Disease:1500689] cancer [Disease:9662153] colon adenocarcinoma
displayName	PALB2 E545* [nucleoplasm]
endCoordinate	544
hasModifiedResidue	[NonsenseMutation:9704462] Nonsense mutation at L-glutamic acid 545
inDisease	true
maxDepth	1
modified	[InstanceEdit:9725948] Orlic-Milacic, Marija, 2021-04-01
name	PALB2 E545* PALB2 Glu545* PALB2 E545TER PALB2 Glu545TER
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9704481
startCoordinate	1

(hasCandidate)

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