Reactome: A Curated Pathway Database
Found 272 matches:
as
decreased_transcript_level and loss_of_function of truncation and missense AXIN mutants [cytosol]
decreased_transcript_level of defective AMER1 gene [nucleoplasm]
decreased_transcript_level of defective AXIN1 gene [nucleoplasm]
gain_of_function of Activated FGFR1 fusion mutants [cytosol]
gain_of_function of Activated FGFR1 fusion mutants:p-PLCG1 [cytosol]
gain_of_function of Activated FGFR1 fusion mutants:PLCG1 [cytosol]
gain_of_function of Activated FGFR1 mutants [plasma membrane]
gain_of_function of Activated FGFR1 mutants:FRS2 [plasma membrane]
gain_of_function of Activated FGFR1 mutants:p-4Y-PLCG1 [plasma membrane]
gain_of_function of Activated FGFR1 mutants:p-FRS2 [plasma membrane]
gain_of_function of Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PI3K [plasma membrane]
gain_of_function of Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PIK3R1 [plasma membrane]
gain_of_function of Activated FGFR1 mutants:PLCG1 [plasma membrane]
gain_of_function of Activated FGFR2 mutants [plasma membrane]
gain_of_function of Activated FGFR2 mutants:FRS2 [plasma membrane]
gain_of_function of Activated FGFR2 mutants:p-4Y-PLCG1 [plasma membrane]
gain_of_function of Activated FGFR2 mutants:p-FRS2 [plasma membrane]
gain_of_function of Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PI3K [plasma membrane]
gain_of_function of Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PIK3R1 [plasma membrane]
gain_of_function of Activated FGFR2 mutants:PLCG1 [plasma membrane]
gain_of_function of Activated FGFR3 mutants [plasma membrane]
gain_of_function of Activated FGFR3 mutants: PLCG1 [plasma membrane]
gain_of_function of Activated FGFR3 mutants:FRS2 [plasma membrane]
gain_of_function of Activated FGFR3 mutants:p-4Y-PLCG1 [plasma membrane]
gain_of_function of Activated FGFR3 mutants:p-FRS2 [plasma membrane]
gain_of_function of Activated FGFR3 mutants:p-FRS2:GRB2:GAB1:PI3K [plasma membrane]
gain_of_function of Activated FGFR3 mutants:p-FRS2:GRB2:GAB1:PIK3R1 [plasma membrane]
gain_of_function of Activated FGFR4 mutants [plasma membrane]
gain_of_function of Activated FGFR4 mutants:FRS2 [plasma membrane]
gain_of_function of Activated FGFR4 mutants:p-4Y-PLCG1 [plasma membrane]
gain_of_function of Activated FGFR4 mutants:p-FRS2 [plasma membrane]
gain_of_function of Activated FGFR4 mutants:p-FRS2:GRB2:GAB1:PI3K [plasma membrane]
gain_of_function of Activated FGFR4 mutants:p-FRS2:GRB2:GAB1:PIK3R1 [plasma membrane]
gain_of_function of Activated FGFR4 mutants:PLCG1 [plasma membrane]
gain_of_function of Active dimers of ligand-responsive EGFR mutants [plasma membrane]
gain_of_function of AKT1 E17K mutant:PIP2 [plasma membrane]
gain_of_function of AKT1 E17K [cytosol]
gain_of_function of BCR-p-FGFR1 fusion mutant dimer [cytosol]
gain_of_function of DLL/JAG:NOTCH1 PEST Domain Mutants [plasma membrane]
gain_of_function of EGF:Ligand-responsive EGFR mutants:HSP90:CDC37 [plasma membrane]
gain_of_function of EGFRvIII mutant dimer [plasma membrane]
gain_of_function of FGFR1 fusion mutant dimers [cytosol]
gain_of_function of FGFR1 fusion mutants [cytosol]
gain_of_function of FGFR1 mutant dimers with enhanced kinase activity [plasma membrane]
gain_of_function of FGFR1 mutants with enhanced kinase activity [plasma membrane]
gain_of_function of FGFR1 mutants:p-FRS2:GRB2:SOS1 [plasma membrane]
gain_of_function of FGFR1 P252X mutant dimers bound to FGFs [plasma membrane]
gain_of_function of FGFR1 P252X mutants [plasma membrane]
gain_of_function of FGFR1b homodimer [plasma membrane]
gain_of_function of FGFR1b [plasma membrane]
gain_of_function of FGFR1c homodimer [plasma membrane]
gain_of_function of FGFR1c [plasma membrane]
gain_of_function of FGFR1OP-p-FGFR1 fusion mutant dimer [cytosol]
gain_of_function of FGFR2 ligand-independent mutant dimers [plasma membrane]
gain_of_function of FGFR2 ligand-independent mutants [plasma membrane]
gain_of_function of FGFR2 mutant dimers with enhanced kinase activity [plasma membrane]
gain_of_function of FGFR2 mutants with enhanced kinase activity [plasma membrane]
gain_of_function of FGFR2 mutants:p-FRS2:GRB2:SOS1 [plasma membrane]
gain_of_function of FGFR2 point mutant dimers [plasma membrane]
gain_of_function of FGFR2b mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane]
gain_of_function of FGFR2b mutants with enhanced ligand binding [plasma membrane]
gain_of_function of FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane]
gain_of_function of FGFR2c mutants with enhanced ligand binding [plasma membrane]
gain_of_function of FGFR3 (4;14) translocation mutant dimers [plasma membrane]
gain_of_function of FGFR3 (4;14) translocation mutants [plasma membrane]
gain_of_function of FGFR3 cysteine mutant dimers [plasma membrane]
gain_of_function of FGFR3 cysteine mutants [plasma membrane]
gain_of_function of FGFR3 mutant dimers [plasma membrane]
gain_of_function of FGFR3 mutants:p-FRS2:GRB2:SOS1 [plasma membrane]
gain_of_function of FGFR3 point mutant dimers with enhanced kinase activity [plasma membrane]
gain_of_function of FGFR3 point mutants with enhanced kinase activity [plasma membrane]
gain_of_function of FGFR3c P250R mutant dimer bound to FGF [plasma membrane]
gain_of_function of FGFR3c P250R [plasma membrane]
gain_of_function of FGFR4 enhanced kinase mutant dimers [plasma membrane]
gain_of_function of FGFR4 enhanced kinase mutants [plasma membrane]
gain_of_function of FGFR4 mutants:p-FRS2:GRB2:SOS1 [plasma membrane]
gain_of_function of FGFR4 Y367C mutant dimer [plasma membrane]
gain_of_function of FGFR4 Y367C [plasma membrane]
gain_of_function of IkBA variant:NFkappaB [cytosol]
gain_of_function of JAK2 V617F [nucleoplasm]
gain_of_function of Ligand responsive p-6Y-EGFR mutants:p-Y349,350-SHC1:GRB2:SOS1 [plasma membrane]
gain_of_function of Ligand-responsive EGFR mutants [plasma membrane]
gain_of_function of Ligand-responsive EGFR mutants:HSP90:CDC37 [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutant dimers [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutants:CBL [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutants:GRB2:GAB1:PI3K [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutants:GRB2:GAB1:PIK3R1 [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutants:GRB2:SOS1 [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutants:p-Y349,350-SHC1 [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutants:p-Y472,771,783,1254-PLCG1 [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutants:PLCG1 [plasma membrane]
gain_of_function of Ligand-responsive p-6Y-EGFR mutants:SHC1 [plasma membrane]
gain_of_function of NEXT1 PEST domain mutants [plasma membrane]
gain_of_function of NICD1 PEST Domain Mutants [cytosol]
gain_of_function of NICD1 PEST Domain Mutants [nucleoplasm]
gain_of_function of NICD1 PEST domain mutants:RBPJ:SNW1 [nucleoplasm]
gain_of_function of NOTCH1 HD domain mutants [plasma membrane]
gain_of_function of NOTCH1 HD+PEST Domain Mutants [plasma membrane]
gain_of_function of NOTCH1 PEST Domain Mutants Coactivator Complex [nucleoplasm]
gain_of_function of NOTCH1 PEST Domain Mutants Coactivator Complex:CDK8:CCNC [nucleoplasm]
gain_of_function of NOTCH1 PEST Domain Mutants Coactivator Complex:HES1 Gene [nucleoplasm]
gain_of_function of NOTCH1 PEST Domain Mutants Coactivator Complex:HES5 Gene [nucleoplasm]
gain_of_function of NOTCH1 PEST Domain Mutants Coactivator Complex:HEY Genes [nucleoplasm]
gain_of_function of NOTCH1 PEST Domain Mutants Coactivator Complex:MYC Gene [nucleoplasm]
gain_of_function of NOTCH1 PEST domain mutants [plasma membrane]
gain_of_function of NOTCH1 t(7;9)(NOTCH1:M1580_K2555) [plasma membrane]
gain_of_function of Overexpressed FGFR1 homodimers [plasma membrane]
gain_of_function of Overexpressed FGFR2 homodimers [plasma membrane]
gain_of_function of Overexpressed FGFR2 [plasma membrane]
gain_of_function of p-5Y-EGFRvIII mutant dimer [plasma membrane]
gain_of_function of p-FGFR1 fusion mutant dimers [cytosol]
gain_of_function of p-FGFR1 fusion mutant dimers:PIK3R1 [cytosol]
gain_of_function of p-FGFR1 mutant fusions:PI3K [cytosol]
gain_of_function of p-S473-AKT1 E17K mutant:PIP2 [plasma membrane]
gain_of_function of p-T308,S473-AKT1 E17K [cytosol]
gain_of_function of p-T308,S473-AKT1 E17K [nucleoplasm]
gain_of_function of p-Y177-BCR-pY-FGFR1 mutant:GRB2:p-GAB2:PIK3R1 [cytosol]
gain_of_function of PDPK1:p-S473-AKT1 E17K mutant:PIP2 [plasma membrane]
gain_of_function of PI3K mutants [plasma membrane]
gain_of_function of pY177-BCR-p-FGFR1 fusion mutant dimer [cytosol]
gain_of_function of pY177-BCR-pY-FGFR1 mutant:GRB2:p-GAB1:PI3K [cytosol]
gain_of_function of pY177-BCR-pY-FGFR1 mutant:GRB2:p-GAB2 [cytosol]
gain_of_function of pY177-BCR1-p-FGFR1 mutant:GRB2:GAB2 [cytosol]
gain_of_function of SHH variants [endoplasmic reticulum lumen]
gain_of_function of Ub-DLL/JAG:NOTCH1 PEST Domain Mutants [plasma membrane]
loss_of_function of ABCA4 mutants [photoreceptor outer segment membrane]
loss_of_function of ACTH mutants [extracellular region]
loss_of_function of ACY1 mutants [cytosol]
loss_of_function of AHCY mutants [cytosol]
loss_of_function of ALDOB mutant proteins [cytosol]
loss_of_function of ALG1 mutants [endoplasmic reticulum membrane]
loss_of_function of ALG11 mutants [endoplasmic reticulum membrane]
loss_of_function of ALG12 mutants [endoplasmic reticulum membrane]
loss_of_function of ALG13:ALG14 mutants [endoplasmic reticulum membrane]
loss_of_function of ALG2 mutants [endoplasmic reticulum membrane]
loss_of_function of ALG3 mutants [endoplasmic reticulum membrane]
loss_of_function of ALG6 mutants [endoplasmic reticulum membrane]
loss_of_function of ALG8 mutants [endoplasmic reticulum membrane]
loss_of_function of ALG9 mutants [endoplasmic reticulum membrane]
loss_of_function of AMN mutants [plasma membrane]
loss_of_function of APC polyubiquitination mutants [cytosol]
loss_of_function of APC truncation mutants [cytosol]
loss_of_function of ARSB mutants [lysosomal lumen]
loss_of_function of B3GAT3 R277Q [Golgi membrane]
loss_of_function of B4GALT1 R345Kfs*6 [Golgi membrane]
loss_of_function of B4GALT7 mutants [Golgi membrane]
loss_of_function of BTD mutants [extracellular region]
loss_of_function of BTD mutants [mitochondrial matrix]
loss_of_function of CD320 E88del [plasma membrane]
loss_of_function of CHST14 mutants [Golgi membrane]
loss_of_function of CHST3 mutants [Golgi membrane]
loss_of_function of CHST6 mutants [Golgi membrane]
loss_of_function of CHSY1 mutants [Golgi membrane]
loss_of_function of CTNNB1 S45 mutants:AXIN:GSK3:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
loss_of_function of CUBN P1297L [plasma membrane]
loss_of_function of CYP11A1 mutants [mitochondrial matrix]
loss_of_function of CYP11B1 mutants [mitochondrial inner membrane]
loss_of_function of CYP11B2 mutants [mitochondrial inner membrane]
loss_of_function of CYP17A1 mutants [endoplasmic reticulum membrane]
loss_of_function of CYP19A1 mutants [endoplasmic reticulum membrane]
loss_of_function of CYP1B1 mutants [endoplasmic reticulum membrane]
loss_of_function of CYP21A2 mutants [endoplasmic reticulum membrane]
loss_of_function of CYP24A1 mutants [mitochondrial inner membrane]
loss_of_function of CYP26B1 R363L [endoplasmic reticulum membrane]
loss_of_function of CYP26C1 mutations [endoplasmic reticulum membrane]
loss_of_function of CYP27A1 mutants [mitochondrial matrix]
loss_of_function of CYP27B1 mutants [mitochondrial outer membrane]
loss_of_function of CYP2R1 L99P [endoplasmic reticulum membrane]
loss_of_function of CYP2U1 mutants [endoplasmic reticulum membrane]
loss_of_function of CYP4F22 mutants [endoplasmic reticulum membrane]
loss_of_function of CYP7B1 mutants [endoplasmic reticulum membrane]
loss_of_function of DPAGT1 mutants [endoplasmic reticulum membrane]
loss_of_function of EGFRvIII mutant:HSP90:CDC37 [plasma membrane]
loss_of_function of EPM2A mutants [cytosol]
loss_of_function of EXT1 mutants [Golgi membrane]
loss_of_function of EXT2 mutants [Golgi membrane]
loss_of_function of FBXW7 WD mutants:SKP1:CUL1:RBX1 [nucleoplasm]
loss_of_function of FMO3 mutants [endoplasmic reticulum membrane]
loss_of_function of GALNS mutants [lysosomal lumen]
loss_of_function of GCLC mutants [cytosol]
loss_of_function of GGT1 mutants [plasma membrane]
loss_of_function of GIF S27Cfs*23 [extracellular region]
loss_of_function of GLB1 mutants [lysosomal lumen]
loss_of_function of GNS mutants [lysosomal lumen]
loss_of_function of GSS mutants [cytosol]
loss_of_function of GUSB mutants [lysosomal lumen]
loss_of_function of HGSNAT mutants [lysosomal membrane]
loss_of_function of HLCS mutants [cytosol]
loss_of_function of HYAL1 [lysosomal lumen]
loss_of_function of IDS mutants [lysosomal lumen]
loss_of_function of IDUA mutants [lysosomal lumen]
loss_of_function of IKBKB [cytosol]
loss_of_function of IRAK4 R12C [cytosol]
loss_of_function of IRAK4 variants [cytosol]
loss_of_function of KHK mutant dimers [cytosol]
loss_of_function of LCT mutant dimers [plasma membrane]
loss_of_function of Ligand-responsive p-6Y-EGFR mutants:CBL [plasma membrane]
loss_of_function of LMBRD1 L352fs*19 [lysosomal membrane]
loss_of_function of LRAT S175R [endoplasmic reticulum membrane]
loss_of_function of LRP5 del666-809 [plasma membrane]
loss_of_function of MAN1B1 mutants [endoplasmic reticulum quality control compartment]
loss_of_function of MAOA Q296* [mitochondrial outer membrane]
loss_of_function of MAT1A mutants [cytosol]
loss_of_function of MGAT2 mutants [Golgi membrane]
loss_of_function of MMAA mutants [mitochondrial matrix]
loss_of_function of MMAB mutants [mitochondrial matrix]
loss_of_function of MMACHC mutants [cytosol]
loss_of_function of MMADHC mutants [cytosol]
loss_of_function of MOGS mutants [endoplasmic reticulum membrane]
loss_of_function of MPDU1 mutants [endoplasmic reticulum membrane]
loss_of_function of MTR mutants [cytosol]
loss_of_function of MTRR mutants [cytosol]
loss_of_function of MUT mutants [mitochondrial matrix]
loss_of_function of MyD88 R196C [cytosol]
loss_of_function of MyD88 variants [cytosol]
loss_of_function of NAGLU mutants [lysosomal lumen]
loss_of_function of NHLRC1 mutants [cytosol]
loss_of_function of NOTCH1 t(7;9)(NOTCH1:M1580_K2555) [plasma membrane]
loss_of_function of OPLAH mutants [cytosol]
loss_of_function of OPN1LW G338E [endoplasmic reticulum lumen]
loss_of_function of OPN1LW mutants [endoplasmic reticulum lumen]
loss_of_function of OPN1MW C203R [photoreceptor outer segment membrane]
loss_of_function of OPN1MW W177R [endoplasmic reticulum lumen]
loss_of_function of OPN1SW mutants [photoreceptor outer segment membrane]
loss_of_function of p-2S-SMAD2/3 MH2 Domain Mutants [cytosol]
loss_of_function of p-5Y-EGFRvIII mutant dimer [plasma membrane]
loss_of_function of p-NICD1 PEST domain mutants [nucleoplasm]
loss_of_function of PAH S40L [cytosol]
loss_of_function of PAPSS2 mutants [cytosol]
loss_of_function of pS37,T41,S45-CTNNB1 S33 mutants:Axin:GSK3:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
loss_of_function of pS45-beta-catenin:p-Axin:GSK3 del304-316:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
loss_of_function of pS45-CTNNB1 T41 mutants:Axin:GSK3:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
loss_of_function of pT41,S45-CTNNB1 S37 mutants:Axin:GSK3:CK1alpha:APC:PP2A:AMER1 complex [cytosol]
loss_of_function of PTEN Mutants [cytosol]
loss_of_function of RBP4 mutants [cytosol]
loss_of_function of RDH12 A126V [photoreceptor inner segment]
loss_of_function of RDH12 mutants [photoreceptor inner segment]
loss_of_function of RDH5 mutants [endoplasmic reticulum membrane]
loss_of_function of RFT1 R67C [endoplasmic reticulum membrane]
loss_of_function of RNF43 mutants [plasma membrane]
loss_of_function of SGSH mutants [lysosomal lumen]
loss_of_function of SHH variants [endoplasmic reticulum lumen]
loss_of_function of SI mutant dimers [plasma membrane]
loss_of_function of SLC26A2 mutants [plasma membrane]
loss_of_function of SLC35D1 mutants [endoplasmic reticulum membrane]
loss_of_function of SMAD2/3 MH2 Domain Mutants [cytosol]
loss_of_function of SMAD2/3 Phosphorylation Motif Mutants [cytosol]
loss_of_function of SMAD4 MH2 domain mutants
loss_of_function of STRA6 mutants [plasma membrane]
loss_of_function of TBXAS1 mutants [endoplasmic reticulum membrane]
loss_of_function of TCF7L2 mutants [nucleoplasm]
loss_of_function of TCN2 P259R [extracellular region]
loss_of_function of TGFB1:p-TGFBR:SARA:SMAD2/3 Phosphorylation Motif Mutants [early endosome membrane]
loss_of_function of TGFB1:p-TGFBR:ZFYVE9:p-2S-SMAD2/3 MH2 Domain Mutants [early endosome membrane]
loss_of_function of TGFB1:p-TGFBR:ZFYVE9:SMAD2/3 MH2 Domain Mutants [early endosome membrane]
loss_of_function of TGFB1:TGFBR2 KD Mutant Dimers [plasma membrane]
loss_of_function of TGFB1:TGFBR2 KD Mutants:TGFBR1 [plasma membrane]
loss_of_function of TGFB1:TGFBR2:p-TGFBR1 KD Mutants [plasma membrane]
loss_of_function of TGFB1:TGFBR2:TGFBR1 KD Mutants [plasma membrane]
loss_of_function of TGFBR1 KD Mutants:FKBP1A [plasma membrane]
loss_of_function of TGFBR1 LBD Mutants:FKBP1A [plasma membrane]
loss_of_function of TGFBR2 Kinase Domain Mutants [plasma membrane]
loss_of_function of TGFBR2 MSI frameshift mutants [cytosol]
loss_of_function of TICAM1 variants [cytosol]
loss_of_function of TLR associated IKBKG variants [cytosol]
loss_of_function of TLR3 variants [endosome membrane]
loss_of_function of TPMT mutants [cytosol]
loss_of_function of TRAF3 R118W [cytosol]
loss_of_function of truncated AMER1 mutants [cytosol]
loss_of_function of UGT1A1 mutants [endoplasmic reticulum membrane]
loss_of_function of UGT1A4 S376F [endoplasmic reticulum membrane]
loss_of_function of UNC93B1 [endoplasmic reticulum membrane]