Reactome | PALB2 L1070P [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9724596] Orlic-Milacic, Marija, 2021-03-24
crossReference	[DatabaseIdentifier:12021298] Mondo:0005590 [DatabaseIdentifier:9724575] COSMIC:COSV55162866 [DatabaseIdentifier:9724579] ClinGen:CA339433 [DatabaseIdentifier:9726027] LOVD:0000695036 [DatabaseIdentifier:9726019] LOVD:0000695155
dbId	9724556
disease	[Disease:1500689] cancer [Disease:9669011] breast ductal carcinoma [Disease:1500576] breast cancer
displayName	PALB2 L1070P [nucleoplasm]
endCoordinate	1186
hasModifiedResidue	[ReplacedResidue:9724585] L-leucine 1070 replaced with L-proline
inDisease	true
literatureReference	[LiteratureReference:9724158] Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2 [LiteratureReference:9724157] Functional characterization of 84 PALB2 variants of uncertain significance
maxDepth	1
memberOf	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9726054] Orlic-Milacic, Marija, 2021-04-01
name	PALB2 L1070P
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9724556
startCoordinate	1

(hasMember)

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