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Details on Person PALB2 Y1183* [nucleoplasm]

Class:Id	EntityWithAccessionedSequence:9704790
_displayName	PALB2 Y1183* [nucleoplasm]
_timestamp	2020-10-14 02:59:55
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704795] Orlic-Milacic, Marija, 2020-10-14
crossReference	[DatabaseIdentifier:9704798] COSMIC:COSV104552896
disease	[Disease:1500689] cancer [Disease:9704435] Fanconi anemia [Disease:1500576] breast cancer [Disease:9701266] mucosal melanoma
endCoordinate	1182
hasModifiedResidue	[NonsenseMutation:9704785] Nonsense mutation at L-tyrosine 1183
literatureReference	[LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer [LiteratureReference:9704791] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
modified	[InstanceEdit:9704800] Orlic-Milacic, Marija, 2020-10-14
name	PALB2 Y1183* PALB2 Tyr1183* PALB2 Y1183TER PALB2 Tyr1183TER
referenceEntity	[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9704796] R-HSA-9704790.1
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 Y1183* [nucleoplasm] (9704790)