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Details on Person partial_loss_of_function via missense_variant

Class:IdFunctionalStatus:9657142
_displayNamepartial_loss_of_function via missense_variant
_timestamp2019-08-07 20:39:07
created[InstanceEdit:9657143] Orlic-Milacic, Marija, 2019-08-07
functionalStatusType[FunctionalStatusType:2426111] partial_loss_of_function
structuralVariant[SequenceOntology:2317390] missense_variant
(functionalStatus)[EntityFunctionalStatus:9657141] partial_loss_of_function of OGG1 mutants:FapyG-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9659798] loss_of_function and partial_loss_of_function of RB1 mutants (E2F binding) [nucleoplasm]
[EntityFunctionalStatus:9699149] loss_of_function and partial_loss_of_function of BARD1 mutants (BRCA1 binding) [nucleoplasm]
[EntityFunctionalStatus:9702767] 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]
[EntityFunctionalStatus:9709612] loss_of_function and partial_loss_of_function of 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:BRCA2 mutants (PALB2 binding):SEM1:BCDX2 complex [nucleoplasm]
[EntityFunctionalStatus:9726239] loss_of_function and partial_loss_of_function of TP53 mutants (tetramerization) [nucleoplasm]
[EntityFunctionalStatus:9763199] loss_of_function and partial_loss_of_function of BRCA2 mutants (SEM1 binding) [cytosol]
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No pathways have been reviewed or authored by partial_loss_of_function via missense_variant (9657142)
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