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Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
PALB2 L531Cfs*30 [nucleoplasm]
Show undefined attributes
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compartment
[Compartment:7660] nucleoplasm
created
[InstanceEdit:9704441] Orlic-Milacic, Marija, 2020年10月09日
crossReference
[DatabaseIdentifier:11945224] Mondo:0008315
[DatabaseIdentifier:11944895] Mondo:0007254
[DatabaseIdentifier:11944892] Mondo:0004992
[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年04月01日
name
PALB2 L531Cfs*30
PALB2 Leu531Cysfs*30*
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
Referrals
(hasMember)
[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm]
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