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Results for the Protein: Q01968
67477390

OCRL_HUMAN RecName: Full=Inositol polyphosphate 5-phosphatase OCRL-1; AltName: Full=Lowe oculocerebrorenal syndrome protein

Known Diseases associated with this Protein:
  DENT DISEASE 2
  DENT DISEASE 2 (DD2)
  LOWE OCULOCEREBRORENAL SYNDROME
  LOWE OCULOCEREBRORENAL SYNDROME (OCRL)
46
3
6
0
43
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Default View:

COG5411 - COG5411
IPPc - smart00128
Exo_endo_phos - pfam03372
RhoGAP_OCRL1 - cd04380
RhoGAP_ARHGAP22_24_2 - cd04390
RhoGAP_p190 - cd04373
RhoGAP-p50rhoGAP - cd04404
RhoGAP_FAM13A1a - cd04393
RhoGAP_srGAP - cd04383
RhoGAP_GMIP_PARG1 - cd04378
RhoGAP - smart00324
RhoGAP - cd00159
RhoGAP - pfam00620
RhoGAP_nadrin - cd04386


Swiss-Prot Protein: Q01968
Identical to: NP_000267
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RhoGAP_OCRL1cd043801.2e-106668898
RhoGAP_ARHGAP22_24_2cd043900.00026715901
RhoGAP_p190cd043730.00075719898
RhoGAP_FAM13A1acd043931.6e-05721898
RhoGAP-p50rhoGAPcd044040.0006721889
RhoGAP_srGAPcd043830.0006722894
RhoGAP_GMIP_PARG1cd043780.0003728894
RhoGAPcd001593.6e-28735894
RhoGAP_nadrincd043860.00011735900
COG5411COG54111.3e-35211663
Exo_endo_phospfam033722.2e-75242531
RhoGAPpfam006202.6e-34735877
IPPcsmart001281.8e-156238539
RhoGAPsmart003241.8e-39732895

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010189Polymorphismp.ALA797PRON/A
Swiss-ProtVAR_022698Diseasep.ARG318CYSLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064776Diseasep.ARG337CYSLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010180Diseasep.ARG500GLNLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064783Diseasep.ARG457GLYLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010179Diseasep.ARG500GLYLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064778Diseasep.ARG361ILELowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010169Diseasep.ARG337PROLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064786Diseasep.ARG493TRPDent disease 2 (DD2)
Swiss-ProtVAR_010175Diseasep.ASN424ASPLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064777Diseasep.ASN354HISDent disease 2 (DD2)
Swiss-ProtVAR_064790Diseasep.ASN591LYSLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064779Diseasep.ASN373TYRLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064782Diseasep.ASP451ASNLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010176Diseasep.ASP451GLYLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064788Diseasep.ASP499HISLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010178Diseasep.CYS498TYRLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064775Diseasep.GLN277ARGLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064784Diseasep.GLU468GLYLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064785Diseasep.GLU468LYSLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010170Polymorphismp.GLY357GLUN/A
Swiss-ProtVAR_010174Diseasep.GLY421GLULowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064781Diseasep.HIS414ARGLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010185Diseasep.HIS524ARGLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010184Diseasep.HIS524GLNLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010173Diseasep.HIS375TYRLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010188Polymorphismp.ILE768ASNN/A
Swiss-ProtVAR_010187Diseasep.ILE533SERLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064774Diseasep.ILE274THRLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064794Diseasep.LEU891ARGLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064773Diseasep.PHE242SERLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010177Diseasep.PHE463SERLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064787Diseasep.PRO495LEULowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_023958Diseasep.PRO526LEULowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064792Diseasep.PRO799LEUDent disease 2 (DD2)
Swiss-ProtVAR_064793Diseasep.PRO801LEULowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010183Diseasep.SER522ARGLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064780Diseasep.SER374PHELowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_064789Diseasep.TRP503ARGLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_022699Diseasep.TYR479CYSDent disease 2 (DD2)
Swiss-ProtVAR_010182Diseasep.TYR513CYSLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010181Diseasep.VAL508ASPLowe oculocerebrorenal syndrome (OCRL)
Swiss-ProtVAR_010172Diseasep.VAL372GLYLowe oculocerebrorenal syndrome (OCRL)
OMIM300535.0006 Diseasep.ARG301CYSDENT DISEASE 2
OMIM300535.0003 Diseasep.ARG577GLNLOWE OCULOCEREBRORENAL SYNDROME
OMIM300535.0007 Diseasep.ARG476TRPDENT DISEASE 2
OMIM300535.0004 Diseasep.HIS601GLNLOWE OCULOCEREBRORENAL SYNDROME
OMIM300535.0008 Diseasep.ILE526THRDENT DISEASE 2
OMIM300535.0005 Diseasep.TYR462CYSDENT DISEASE 2



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