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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
PALB2 G937R [nucleoplasm]
Show undefined attributes
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compartment
[Compartment:7660] nucleoplasm
created
[InstanceEdit:9724596] Orlic-Milacic, Marija, 2021年03月24日
crossReference
[DatabaseIdentifier:11944895] Mondo:0007254
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:9724572] ClinGen:CA395144928
[DatabaseIdentifier:9725967] LOVD:0000695027
[DatabaseIdentifier:9725955] LOVD:0000741548
dbId
9724592
disease
[Disease:1500689] cancer
[Disease:1500576] breast cancer
displayName
PALB2 G937R [nucleoplasm]
endCoordinate
1186
hasModifiedResidue
[ReplacedResidue:9724588] glycine 937 replaced with L-arginine
inDisease
true
literatureReference
[LiteratureReference:9724158] Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
maxDepth
1
memberOf
[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
modified
[InstanceEdit:9725982] Orlic-Milacic, Marija, 2021年04月01日
name
PALB2 G937R
referenceEntity
[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9724592
startCoordinate
1
Referrals
(hasMember)
[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm]
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