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Schema
>
FunctionalStatus
>
Entries
loss_of_function via missense_variant
Show undefined attributes
created
[InstanceEdit:2317389] Orlic-Milacic, M, 2012年06月11日
dbId
2317386
displayName
loss_of_function via missense_variant
functionalStatusType
[FunctionalStatusType:2426104] loss_of_function
modified
[InstanceEdit:2426112] Wu, G, 2012年07月26日
schemaClass
FunctionalStatus
structuralVariant
[SequenceOntology:2317390] missense_variant
Referrals
(functionalStatus)
[EntityFunctionalStatus:5602581] loss_of_function of TLR3 variants [endosome membrane]
[EntityFunctionalStatus:5602522] loss_of_function of TRAF3 R118W [cytosol]
[EntityFunctionalStatus:9658484] loss_of_function of MyD88 variant:TLR5:bacterial flagellin [plasma membrane]
[EntityFunctionalStatus:5602493] loss_of_function of MyD88 R196C [cytosol]
[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:5602587] loss_of_function of IRAK4 variants [cytosol]
[EntityFunctionalStatus:5602468] loss_of_function of TICAM1 variants [cytosol]
[EntityFunctionalStatus:9630951] loss_of_function of NFKBIA variants:NFkB complex [cytosol]
[EntityFunctionalStatus:9630819] loss_of_function of p16INK4A LoF mutants (CDK4/6) [cytosol]
[EntityFunctionalStatus:9630827] loss_of_function of p16INK4A LoF mutants (CDK4) [cytosol]
[EntityFunctionalStatus:9945022] loss_of_function of KMT2D LOF variants (WRAD binding) [nucleoplasm]
[EntityFunctionalStatus:9022523] loss_of_function of MECP2 R133C,MECP2 D121G,MECP2 R133H,MECP2 S134F [nucleoplasm]
[EntityFunctionalStatus:9005873] loss_of_function of Mecp2_e2 R306C [nucleoplasm]
[EntityFunctionalStatus:9005557] loss_of_function of MECP2 mutants R306C,(R306H) [nucleoplasm]
[EntityFunctionalStatus:9023462] loss_of_function of MECP2 T158A:SIN3A:HDAC1 [nucleoplasm]
[EntityFunctionalStatus:9022526] loss_of_function of MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm]
[EntityFunctionalStatus:9005566] loss_of_function of MECP2 mutants P302R,K304E,K305R,R306C,(R306H) [nucleoplasm]
[EntityFunctionalStatus:9630233] loss_of_function of NTHL1 D239Y:Tg-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9630231] loss_of_function of NTHL1 D239Y:DHU-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9629157] loss_of_function of NEIL1 G83D,NEIL1 E28del:Tg-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9628767] loss_of_function of NEIL1 G83D:FapyA-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9628769] loss_of_function of NEIL1 G83D:FapyG-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9628754] loss_of_function of NEIL1 G83D:DHU-dsDNA [nucleoplasm]
[EntityFunctionalStatus:9656305] loss_of_function of OGG1 mutants (8oxoG binding) [nucleoplasm]
[EntityFunctionalStatus:9657056] loss_of_function of OGG1beta G12E [cytosol]
[EntityFunctionalStatus:9629265] loss_of_function of NEIL3 D132V:Gh-DNA [nucleoplasm]
[EntityFunctionalStatus:9704407] loss_of_function of PALB2 mutants (BRCA1 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:9663211] loss_of_function of BRCA1 mutants (BARD1 binding) [nucleoplasm]
[EntityFunctionalStatus:9763199] loss_of_function and partial_loss_of_function of BRCA2 mutants (SEM1 binding) [cytosol]
[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:9763399] loss_of_function of BRCA2 mutants (RAD51 binding):SEM1 [nucleoplasm]
[EntityFunctionalStatus:9645767] loss_of_function of p14ARF LOF mutants (C1QBP) [cytosol]
[EntityFunctionalStatus:9726239] loss_of_function and partial_loss_of_function of TP53 mutants (tetramerization) [nucleoplasm]
[EntityFunctionalStatus:9693921] loss_of_function of TRADD:TRAF2:RIPK1 variant:FADD [cytosol]
[EntityFunctionalStatus:9659798] loss_of_function and partial_loss_of_function of RB1 mutants (E2F binding) [nucleoplasm]
[EntityFunctionalStatus:5660010] loss_of_function of RPIA A61V [cytosol]
[EntityFunctionalStatus:5660006] loss_of_function of TALDO1 mutant dimers [cytosol]
[EntityFunctionalStatus:5656442] loss_of_function of ALDOB mutant proteins [cytosol]
[EntityFunctionalStatus:5658005] loss_of_function of LCT mutant dimers [plasma membrane]
[EntityFunctionalStatus:5659891] loss_of_function of SI mutant dimers [plasma membrane]
[EntityFunctionalStatus:5656461] loss_of_function of KHK mutant dimers [cytosol]
[EntityFunctionalStatus:3814833] loss_of_function of mutant GYG1:GYS1-a tetramer [cytosol]
[EntityFunctionalStatus:3858518] loss_of_function of oligoGlc-GYG2:GYS2 mutant tetramer [cytosol]
[EntityFunctionalStatus:3791354] loss_of_function of mutant EPM2A:PPP1R3C:phosphoglycogen-GYG1:GYS1-a tetramer [cytosol]
[EntityFunctionalStatus:3797214] loss_of_function of NHLRC1 mutants [cytosol]
[EntityFunctionalStatus:3229136] loss_of_function of SLC37A4 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:3282871] loss_of_function of G6PC3 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5357601] loss_of_function of GAA mutants [lysosomal lumen]
[EntityFunctionalStatus:3878782] loss_of_function of GBE1 mutants [cytosol]
[EntityFunctionalStatus:3274536] loss_of_function of G6PC mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:9915354] loss_of_function of ACAT1 mutant tetramer [mitochondrial matrix]
[EntityFunctionalStatus:9865103] loss_of_function of DBT mutant-BCKDH [mitochondrial matrix]
[EntityFunctionalStatus:9907589] loss_of_function of DLD mutant-BCKDH [mitochondrial matrix]
[EntityFunctionalStatus:9865105] loss_of_function of BCKDH mutant tetramer [mitochondrial matrix]
[EntityFunctionalStatus:9914224] loss_of_function of MCCC mutant complexes [mitochondrial matrix]
[EntityFunctionalStatus:9916715] loss_of_function of ECHS1 mutant hexamer [mitochondrial matrix]
[EntityFunctionalStatus:9912482] loss_of_function of BCKDK mutant dimers [mitochondrial matrix]
[EntityFunctionalStatus:9916723] loss_of_function of HIBCH mutants [mitochondrial matrix]
[EntityFunctionalStatus:9914832] loss_of_function of mutant IVD tetramer [mitochondrial matrix]
[EntityFunctionalStatus:9931918] loss_of_function of GALM mutants [cytosol]
[EntityFunctionalStatus:9714049] loss_of_function of ceritinib-resistant ALK mutants [plasma membrane]
[EntityFunctionalStatus:9714051] loss_of_function of crizotinib resistant ALK mutants [plasma membrane]
[EntityFunctionalStatus:9714057] loss_of_function of lorlatinib-resistant ALK mutants [plasma membrane]
[EntityFunctionalStatus:9717334] loss_of_function of ASP3026-resistant ALK mutants [plasma membrane]
[EntityFunctionalStatus:9714045] loss_of_function of brigatinib-resistant ALK mutants [plasma membrane]
[EntityFunctionalStatus:9717337] loss_of_function of NVP-TAE684-resistant ALK mutants [plasma membrane]
[EntityFunctionalStatus:9714044] loss_of_function of alectinib resistant ALK mutants [plasma membrane]
[EntityFunctionalStatus:5637714] loss_of_function of Ligand-responsive p-6Y-EGFR mutants:p-Y371-CBL [plasma membrane]
[EntityFunctionalStatus:2642421] loss_of_function of FBXW7 WD mutants:SKP1:CUL1:RBX1 [nucleoplasm]
[EntityFunctionalStatus:9674394] loss_of_function of imatinib-resistant PDGFR mutants [plasma membrane]
[EntityFunctionalStatus:9674402] loss_of_function of sorafenib-resistant PDGFR mutants [plasma membrane]
[EntityFunctionalStatus:9674406] loss_of_function of PDGFRA D842V [plasma membrane]
[EntityFunctionalStatus:3315484] loss_of_function of p-2S-SMAD2/3 MH2 Domain Mutants [cytosol]
[EntityFunctionalStatus:3304395] loss_of_function of TGFB1:p-TGFBR:ZFYVE9:SMAD2/3 Phosphorylation Motif Mutants [early endosome membrane]
[EntityFunctionalStatus:3311016] loss_of_function of SMAD4 MH2 domain mutants
[EntityFunctionalStatus:3656381] loss_of_function of TGFBR1 LBD Mutants:FKBP1A [plasma membrane]
[EntityFunctionalStatus:3645781] loss_of_function of TGFB1:TGFBR2 KD Mutants:TGFBR1 [plasma membrane]
[EntityFunctionalStatus:9651308] loss_of_function of RAS GAP mutants:GTP [plasma membrane]
[EntityFunctionalStatus:9649911] loss_of_function of RAS GTPase mutants:GTP [plasma membrane]
[EntityFunctionalStatus:9652812] loss_of_function of constitutively active MAPK1 mutants [cytosol]
[EntityFunctionalStatus:9660489] loss_of_function of SHOC2 M173I:MRAS:PP1 [plasma membrane]
[EntityFunctionalStatus:9656192] loss_of_function of p-S621 RAF1 CR2 mutants [cytosol]
[EntityFunctionalStatus:9824404] loss_of_function of ADAMTS13 variant [extracellular region]
[EntityFunctionalStatus:9669876] loss_of_function of sorafenib resistant KIT mutants [plasma membrane]
[EntityFunctionalStatus:9669866] loss_of_function of nilotinib resistant KIT mutants [plasma membrane]
[EntityFunctionalStatus:9669864] loss_of_function of masitinib resistant KIT mutants [plasma membrane]
[EntityFunctionalStatus:9669853] loss_of_function of dasatinib resistant KIT mutants [plasma membrane]
[EntityFunctionalStatus:9669871] loss_of_function of regorafenib-resistant KIT mutants [plasma membrane]
[EntityFunctionalStatus:9669880] loss_of_function of sunitinib resistant KIT mutants [plasma membrane]
[EntityFunctionalStatus:9669860] loss_of_function of imatinib resistant KIT mutants [plasma membrane]
[EntityFunctionalStatus:5339707] loss_of_function of TCF7L2 mutants [nucleoplasm]
[EntityFunctionalStatus:4839615] loss_of_function of pS45-CTNNB1 T41 mutants:Axin:GSK3:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
[EntityFunctionalStatus:5339709] loss_of_function of pS37,T41,S45-CTNNB1 S33 mutants:Axin:GSK3:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
[EntityFunctionalStatus:4839620] loss_of_function of pT41,S45-CTNNB1 S37 mutants:Axin:GSK3:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
[EntityFunctionalStatus:4827390] loss_of_function of CTNNB1 S45 mutants:AXIN:GSK3:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
[EntityFunctionalStatus:5340585] loss_of_function of RNF43 mutants [plasma membrane]
[EntityFunctionalStatus:9706355] loss_of_function of Active FLT3:CBL mutants [plasma membrane]
[EntityFunctionalStatus:9702584] loss_of_function of crenolanib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702611] loss_of_function of ponatinib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702996] loss_of_function of linifanib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702575] loss_of_function of semaxanib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702619] loss_of_function of quizartinib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702588] loss_of_function of gilteritinib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702594] loss_of_function of lestaurtinib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702626] loss_of_function of sorafenib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9703005] loss_of_function of tamatinib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702637] loss_of_function of tandutinib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702608] loss_of_function of pexidartinib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702630] loss_of_function of sunitinib-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702602] loss_of_function of midostaurin-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9702571] loss_of_function of KW2449-resistant FLT3 mutants [plasma membrane]
[EntityFunctionalStatus:9665966] loss_of_function of ERBB2 TMD/JMD mutants (pertuzumab resistant):ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:9665279] loss_of_function of ERBB2 KD mutants (lapatinib resistant):ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:9665277] loss_of_function of ERBB2 KD mutants (AEE788 resistant):ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:9665235] loss_of_function of ERBB2 KD mutants (trastuzumab resistant):ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:9665310] loss_of_function of ERBB2 T798M:ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:9665270] loss_of_function of ERBB2 KD mutants (osimertinib resistant):ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:9665275] loss_of_function of ERBB2 KD mutants (neratinib resistant):ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:9665302] loss_of_function of ERBB2 T733I:ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:9665307] loss_of_function of ERBB2 T862A:ERBIN:HSP90:CDC37 [plasma membrane]
[EntityFunctionalStatus:5674405] loss_of_function of PTEN Mutants [cytosol]
[EntityFunctionalStatus:5358457] loss_of_function of SHH variants [endoplasmic reticulum lumen]
[EntityFunctionalStatus:5483232] loss_of_function of HHAT G287V [endoplasmic reticulum membrane]
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