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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
PALB2 E545* [nucleoplasm]
Show undefined attributes
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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年10月09日
crossReference
[DatabaseIdentifier:11944978] Mondo:0002271
[DatabaseIdentifier:11944892] Mondo:0004992
[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年04月01日
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
Referrals
(hasCandidate)
[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm]
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