Reactome | loss_of_function via inframe

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loss_of_function via inframe_deletion Show undefined attributes

created	[InstanceEdit:5602721] Shamovsky, Veronica, 2014-06-24
dbId	5602717
displayName	loss_of_function via inframe_deletion
functionalStatusType	[FunctionalStatusType:2426104] loss_of_function
schemaClass	FunctionalStatus
structuralVariant	[SequenceOntology:2318498] inframe_deletion

Referrals

(functionalStatus)

[EntityFunctionalStatus:9658484] loss_of_function of MyD88 variant:TLR5:bacterial flagellin [plasma membrane]
[EntityFunctionalStatus:5602376] loss_of_function of MyD88 variants [cytosol]
[EntityFunctionalStatus:9658483] loss_of_function of MyD88 variant:TIRAP:BTK:activated TLR2/4 [plasma membrane]
[EntityFunctionalStatus:5661056] loss_of_function of SLC9A6 mutants [early endosome membrane]
[EntityFunctionalStatus:5623709] loss_of_function of SLC11A2 mutants [plasma membrane]
[EntityFunctionalStatus:5625042] loss_of_function of SLC1A1 mutants [plasma membrane]
[EntityFunctionalStatus:5621866] loss_of_function of HK1 mutants [cytosol]
[EntityFunctionalStatus:5683172] loss_of_function of KCNJ11 tetramer:ABCC8 mutants [plasma membrane]
[EntityFunctionalStatus:5685083] loss_of_function of ABCD1 mutants [peroxisomal membrane]
[EntityFunctionalStatus:9629157] loss_of_function of NEIL1 G83D,NEIL1 E28del:Tg-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9605336] loss_of_function of MUTYH LOF mutants:(8oxoG:Ade)-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9687399] loss_of_function of RB1 T738_R775del [nucleoplasm]
[EntityFunctionalStatus:5688395] loss_of_function of pro-SFTPB mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:4549390] loss_of_function of ALG2 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5637711] loss_of_function of p-5Y-EGFRvIII mutant dimer [plasma membrane]
[EntityFunctionalStatus:5638136] loss_of_function of EGFRvIII mutant:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:5637714] loss_of_function of Ligand-responsive p-6Y-EGFR mutants:p-Y371-CBL [plasma membrane]
[EntityFunctionalStatus:9674394] loss_of_function of imatinib-resistant PDGFR mutants [plasma membrane]
[EntityFunctionalStatus:9706355] loss_of_function of Active FLT3:CBL mutants [plasma membrane]
[EntityFunctionalStatus:9650519] loss_of_function of Non-secretable SERPING1 variants [endoplasmic reticulum lumen]
[EntityFunctionalStatus:9665811] loss_of_function of F8 variant [extracellular region]

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