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Details on Person PALB2 Y409* [nucleoplasm]

Class:Id	EntityWithAccessionedSequence:9704483
_displayName	PALB2 Y409* [nucleoplasm]
_timestamp	2021-03-24 20:55:06
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704494] Orlic-Milacic, Marija, 2020-10-09
crossReference	[DatabaseIdentifier:9704896] COSMIC:COSV55167656
disease	[Disease:1500689] cancer [Disease:9648676] gastroesophageal junction adenocarcinoma [Disease:1500576] breast cancer
endCoordinate	408
hasModifiedResidue	[NonsenseMutation:9704449] Nonsense mutation at L-tyrosine 409
literatureReference	[LiteratureReference:9724158] Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
modified	[InstanceEdit:9704911] Orlic-Milacic, Marija, 2020-10-15 [InstanceEdit:9724630] Orlic-Milacic, Marija, 2021-03-24
name	PALB2 Y409* PALB2 Tyr409* PALB2 Y409TER PALB2 Tyr409TER
referenceEntity	[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9704535] R-HSA-9704483.1
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 Y409* [nucleoplasm] (9704483)