Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

PALB2 V132Afs*45 [nucleoplasm] Show undefined attributes

candidateOf

[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] - Homo sapiens

compartment

[Compartment:7660] nucleoplasm

created [InstanceEdit:9704804] Orlic-Milacic, Marija, 2020年10月14日

crossReference

dbId 9704802

disease

displayName PALB2 V132Afs*45 [nucleoplasm]

endCoordinate 175

hasModifiedResidue

[FragmentReplacedModification:9704809] Replacement of residues 132 to 175 by AVTLVVSKSRSCQAEERSSRRGHLFHRRETVSLALIHSDCLGKD

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年04月01日

name

PALB2 V132Afs*45
PALB2 Val132Alafs*45

referenceEntity [ReferenceGeneProduct:uniprot:Q86YC2] UniProt:Q86YC2 PALB2

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9704802

startCoordinate 1

Referrals

(hasCandidate)

[CandidateSet:R-HSA-9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm]

© 2025 Reactome

Cite Us!