Reactome | PALB2 L1119P [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9724596] Orlic-Milacic, Marija, 2021-03-24
crossReference	[DatabaseIdentifier:9724598] ClinGen:CA331796 [DatabaseIdentifier:9725984] LOVD:0000080140 [DatabaseIdentifier:9725987] LOVD:0000695064 [DatabaseIdentifier:9725994] LOVD:0000695115
dbId	9724589
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer
displayName	PALB2 L1119P [nucleoplasm]
endCoordinate	1186
hasModifiedResidue	[ReplacedResidue:9724573] L-leucine 1119 replaced with L-proline
inDisease	true
literatureReference	[LiteratureReference:9724146] A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor [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
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 L1119P
referenceEntity	[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9724589
startCoordinate	1

(hasMember)