Reactome | PALB2 R37H [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9724177] Orlic-Milacic, Marija, 2021-03-22
crossReference	[DatabaseIdentifier:12021298] Mondo:0005590 [DatabaseIdentifier:9724180] COSMIC:COSV55166817
dbId	9724178
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer [Disease:9669011] breast ductal carcinoma
displayName	PALB2 R37H [nucleoplasm]
endCoordinate	1186
hasModifiedResidue	[ReplacedResidue:9724179] L-arginine 37 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:9724030] Compromised BRCA1-PALB2 interaction is associated with breast cancer risk [LiteratureReference:9724157] Functional characterization of 84 PALB2 variants of uncertain significance [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
maxDepth	1
memberOf	[CandidateSet:R-HSA-9704332] PALB2 mutants (BRCA1 binding) [nucleoplasm] - Homo sapiens
name	PALB2 R37H PALB2 Arg37His
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9724178
startCoordinate	1

(hasMember)

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