Reactome | PALB2 T841Qfs*10 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9704753] Orlic-Milacic, Marija, 2020-10-13
crossReference	[DatabaseIdentifier:9726004] LOVD:0000736966 [DatabaseIdentifier:9726005] LOVD:0000044631 [DatabaseIdentifier:9725989] LOVD:0000080072 [DatabaseIdentifier:9726046] LOVD:0000080073 [DatabaseIdentifier:9726043] LOVD:0000080074 [DatabaseIdentifier:9726047] LOVD:0000080391 [DatabaseIdentifier:9726011] LOVD:0000080458
dbId	9704749
disease	[Disease:1500689] cancer [Disease:1500576] breast cancer [Disease:9704435] Fanconi anemia
displayName	PALB2 T841Qfs*10 [nucleoplasm]
endCoordinate	849
hasModifiedResidue	[FragmentReplacedModification:9704747] Replacement of residues 841 to 849 by QQSFLLLIA
inDisease	true
literatureReference	[LiteratureReference:9704742] Analysis of PALB2/FANCN-associated breast cancer families [LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
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 T841Qfs10 PALB2 Thr841Glnfs10 PALB2 T841QfsTER10 PALB2 Thr841GlnfsTER10
referenceEntity	[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9704749
startCoordinate	1

(hasMember)

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