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Details on Person loss_of_function and partial_loss_of_function of Defective 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2:BCDX2 complex [nucleoplasm]
| Class:Id | EntityFunctionalStatus:9702767 |
| _displayName | loss_of_function and partial_loss_of_function of Defective 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2:BCDX2 complex [nucleoplasm] |
| _timestamp | 2020-10-01 21:32:44 |
| created | [InstanceEdit:9702766] Orlic-Milacic, Marija, 2020-10-01 |
| diseaseEntity | [Complex:9702089] Defective 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2:BCDX2 complex [nucleoplasm] [Homo sapiens] |
| functionalStatus | [FunctionalStatus:2317386] loss_of_function via missense_variant [FunctionalStatus:9657142] partial_loss_of_function via missense_variant [FunctionalStatus:2823060] loss_of_function via frameshift_truncation [FunctionalStatus:2409052] loss_of_function via stop_gained |
| normalEntity | [Complex:5685343] 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2:SEM1:BCDX2 complex [nucleoplasm] [Homo sapiens] |
| (entityFunctionalStatus) | [FailedReaction:9701199] Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of BRCA1 in PALB2 binding [Homo sapiens] |
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No pathways have been reviewed or authored by loss_of_function and partial_loss_of_function of Defective 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2:BCDX2 complex [nucleoplasm] (9702767)