Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

PALB2 L939W [nucleoplasm] Show undefined attributes

compartment

[Compartment:7660] nucleoplasm

created [InstanceEdit:9704416] Orlic-Milacic, Marija, 2020年10月09日

crossReference

dbId 9704417

disease

displayName PALB2 L939W [nucleoplasm]

endCoordinate 1186

hasModifiedResidue

[ReplacedResidue:9704415] L-leucine 939 replaced with L-tryptophan

inDisease true

literatureReference

[LiteratureReference:5685831] Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair
[LiteratureReference:9724157] Functional characterization of 84 PALB2 variants of uncertain significance

maxDepth 1

memberOf

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

modified [InstanceEdit:9724615] Orlic-Milacic, Marija, 2021年03月24日

name

PALB2 L939W
PALB2 Leu939Trp

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

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9704417

startCoordinate 1

Referrals

(hasMember)

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

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