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Details on Person PALB2 N280Tfs*8 [nucleoplasm]

Class:Id	EntityWithAccessionedSequence:9704599
_displayName	PALB2 N280Tfs*8 [nucleoplasm]
_timestamp	2020-10-15 14:56:40
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704576] Orlic-Milacic, Marija, 2020-10-09
crossReference	[DatabaseIdentifier:9704933] COSMIC:COSV55164039
disease	[Disease:1500689] cancer [Disease:9662153] colon adenocarcinoma [Disease:9701263] endometrial carcinoma [Disease:9701275] large intestine adenocarcinoma [Disease:9675977] rectum adenocarcinoma [Disease:2328001] skin squamous cell carcinoma [Disease:9701271] stomach carcinoma [Disease:6802264] gastric adenocarcinoma
endCoordinate	286
hasModifiedResidue	[FragmentReplacedModification:9704554] Replacement of residues 280 to 286 by TLDLLHL
modified	[InstanceEdit:9704934] Orlic-Milacic, Marija, 2020-10-15
name	PALB2 N280Tfs*8
referenceEntity	[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9704640] R-HSA-9704599.1
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 N280Tfs*8 [nucleoplasm] (9704599)