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Details on Person PALB2 Q60Rfs*7 [nucleoplasm]

Class:Id	EntityWithAccessionedSequence:9704584
_displayName	PALB2 Q60Rfs*7 [nucleoplasm]
_timestamp	2021-03-24 20:55:03
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704576] Orlic-Milacic, Marija, 2020-10-09
crossReference	[DatabaseIdentifier:9704940] COSMIC:COSV55170212
disease	[Disease:1500689] cancer [Disease:9631014] renal Wilms' tumor
endCoordinate	65
hasModifiedResidue	[FragmentReplacedModification:9704564] Replacement of residues 60 to 65 by RISHRS
literatureReference	[LiteratureReference:9724158] Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
modified	[InstanceEdit:9704945] Orlic-Milacic, Marija, 2020-10-15 [InstanceEdit:9724630] Orlic-Milacic, Marija, 2021-03-24
name	PALB2 Q60Rfs*7
referenceEntity	[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9704630] R-HSA-9704584.1
startCoordinate	1
(hasCandidate)	[CandidateSet:9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by PALB2 Q60Rfs*7 [nucleoplasm] (9704584)