Reactome | PALB2 C77Vfs*100 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704753] Orlic-Milacic, Marija, 2020-10-13
crossReference	[DatabaseIdentifier:12020748] Mondo:0007254 [DatabaseIdentifier:9725925] LOVD:0000080069 [DatabaseIdentifier:9725943] LOVD:0000080070 [DatabaseIdentifier:9725920] LOVD:0000080071 [DatabaseIdentifier:9725924] LOVD:0000080436
dbId	9704738
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer
displayName	PALB2 C77Vfs*100 [nucleoplasm]
endCoordinate	175
hasModifiedResidue	[FragmentReplacedModification:9704744] Replacement of residues 77 to 175 by VFMTSYTSKPILMKKLEKRHLSHLMLGLSPLTLEMAQEDYLYKEQMTPKNIFPTGSVTLVVSKSRSCQAEERSSRRGHLFHRRETVSLALIHSDCLGKD
inDisease	true
literatureReference	[LiteratureReference:9704742] Analysis of PALB2/FANCN-associated breast cancer families
maxDepth	1
memberOf	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9827802] Orlic-Milacic, Marija, 2023-02-06
name	PALB2 C77Vfs100 PALB2 Cys77Valfs100 PALB2 C77VfsTER100 PALB2 Cys77ValfsTER100
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9704738
startCoordinate	1
updateTrackers	[UpdateTracker:9904812] Update Tracker - [EntityWithAccessionedSequence:9704738] PALB2 C77Vfs*100 [nucleoplasm] - v84:[modifyName]

(updatedInstance)	[UpdateTracker:9904812] Update Tracker - [EntityWithAccessionedSequence:9704738] PALB2 C77Vfs*100 [nucleoplasm] - v84:[modifyName]
(hasMember)	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm]

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