Reactome | PALB2 W1140G [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9724596] Orlic-Milacic, Marija, 2021-03-24
crossReference	[DatabaseIdentifier:12020748] Mondo:0007254 [DatabaseIdentifier:9724574] ClinGen:CA186642
dbId	9724563
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer
displayName	PALB2 W1140G [nucleoplasm]
endCoordinate	1186
hasModifiedResidue	[ReplacedResidue:9724580] L-tryptophan 1140 replaced with glycine
inDisease	true
literatureReference	[LiteratureReference:9724146] A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor [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
name	PALB2 W1140G
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9724563
startCoordinate	1

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