Reactome | loss_of_function and partial_loss_of_function of BRCA2 mutants (SEM1 binding) [cytosol]

Schema > EntityFunctionalStatus > Entries

created	[InstanceEdit:9763196] Orlic-Milacic, Marija, 2022-01-31
dbId	9763199
diseaseEntity	[CandidateSet:R-HSA-9763197] BRCA2 mutants (SEM1 binding) [cytosol]
displayName	loss_of_function and partial_loss_of_function of BRCA2 mutants (SEM1 binding) [cytosol]
functionalStatus	[FunctionalStatus:2823060] loss_of_function via frameshift_truncation [FunctionalStatus:2317386] loss_of_function via missense_variant [FunctionalStatus:2409052] loss_of_function via stop_gained [FunctionalStatus:9657142] partial_loss_of_function via missense_variant
normalEntity	[EntityWithAccessionedSequence:R-HSA-9709265] BRCA2 [cytosol]
schemaClass	EntityFunctionalStatus

(entityFunctionalStatus)

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