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Results for the Protein: Q92834
23503098

RPGR_HUMAN RecName: Full=X-linked retinitis pigmentosa GTPase regulator; Flags: Precursor

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 3 (RP3)
  RETINITIS PIGMENTOSA AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS (RPDSI)
24
9
0
0
33
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Default View:

ATS1 - COG5184
RCC1 - pfam00415


Swiss-Prot Protein: Q92834
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ATS1COG51841.6e-081413
RCC1pfam004156.4e-1353102
RCC1pfam004151.1e-06105155
RCC1pfam004157.3e-15158205
RCC1pfam004154.6e-13208258
RCC1pfam004155.3e-14260310
RCC1pfam004151.3e-05313364

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008507Polymorphismp.ALA262GLYN/A
Swiss-ProtVAR_018059Diseasep.ARG127GLYRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_008508Polymorphismp.ARG425LYSN/A
Swiss-ProtVAR_018068Polymorphismp.ASN345ASPN/A
Swiss-ProtVAR_018065Diseasep.ASP312ASNRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_018066Diseasep.ASP312TYRRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_008506Diseasep.CYS250ARGRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_011561Diseasep.CYS302ARGRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_018061Diseasep.CYS250TYRRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_018064Diseasep.CYS302TYRRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_033259Polymorphismp.GLN184HISN/A
Swiss-ProtVAR_026128Diseasep.GLU285GLYRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_018060Diseasep.GLY173ARGRetinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI)
Swiss-ProtVAR_026127Diseasep.GLY267ARGRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_018067Diseasep.GLY320ARGRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_018058Diseasep.GLY43ARGRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_008510Diseasep.GLY436ASPRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_018063Diseasep.GLY267GLURetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_018057Diseasep.GLY43GLURetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_008511Polymorphismp.GLY566GLUN/A
Swiss-ProtVAR_006852Diseasep.GLY275SERRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_008505Diseasep.GLY215VALRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_008501Diseasep.GLY60VALRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_008504Diseasep.HIS98GLNRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_013626Diseasep.ILE289VALRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_008509Polymorphismp.ILE431VALN/A
Swiss-ProtVAR_008503Polymorphismp.ILE75VALN/A
Swiss-ProtVAR_006850Diseasep.PHE130CYSRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_006851Diseasep.PRO235SERRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_013624Polymorphismp.SER76ILEN/A
Swiss-ProtVAR_025949Diseasep.SER152LEURetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_013625Diseasep.THR99ASNRetinitis pigmentosa 3 (RP3)
Swiss-ProtVAR_011563Polymorphismp.THR533METN/A



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