Reactome | PALB2 K1098Nfs*23 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704817] Orlic-Milacic, Marija, 2020-10-14
crossReference	[DatabaseIdentifier:12021449] Mondo:0019391 [DatabaseIdentifier:9726017] LOVD:0000044637 [DatabaseIdentifier:9726018] LOVD:0000080012 [DatabaseIdentifier:9726009] LOVD:0000080013 [DatabaseIdentifier:9726036] LOVD:0000080386
dbId	9704819
disease	[Disease:9704435] Fanconi anemia [Disease:1500689] cancer
displayName	PALB2 K1098Nfs*23 [nucleoplasm]
endCoordinate	1119
hasModifiedResidue	[FragmentReplacedModification:9704818] Replacement of residues 1098 to 1119 by NSQRGCDAVLSSSRAGWQVPGR
inDisease	true
literatureReference	[LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
maxDepth	1
modified	[InstanceEdit:9726054] Orlic-Milacic, Marija, 2021-04-01
name	PALB2 K1098Nfs23 PALB2 Lys1098Asnfs23
referenceEntity	[ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9704819
startCoordinate	1

(hasCandidate)

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