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Results for the Protein: NP_000319
4506581

X-linked retinitis pigmentosa GTPase regulator isoform A [Homo sapiens]

Known Diseases associated with this Protein:
  CONE DYSTROPHY, X-LINKED, 1
  DEAFNESS
  RETINITIS PIGMENTOSA 3
  RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH
8
5
8
5
0
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ATS1 - COG5184
RCC1 - pfam00415


RefSeq Protein: NP_000319
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
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 ↕
dbSNPrs1801687 Polymorphismp.ARG425LYSN/A
dbSNPrs5963403 Polymorphismp.GLN184HISN/A
dbSNPrs1801688 Polymorphismp.GLY566GLUN/A
dbSNPrs62635003 Polymorphismp.ILE431LEUN/A
dbSNPrs34117835 Polymorphismp.PRO768THRN/A
OMIM312610.0012 Diseasep.GLU299TERRETINITIS PIGMENTOSA 3
OMIM312610.0020 Diseasep.GLY173ARGRETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH||DEAFNESS
OMIM312610.0003 Diseasep.GLY275SERRETINITIS PIGMENTOSA 3
OMIM312610.0022 Diseasep.GLY392TERCONE DYSTROPHY, X-LINKED, 1
OMIM312610.0006 Diseasep.GLY60VALRETINITIS PIGMENTOSA 3
OMIM312610.0001 Diseasep.PHE130CYSRETINITIS PIGMENTOSA 3
OMIM312610.0002 Diseasep.PRO235SERRETINITIS PIGMENTOSA 3
OMIM312610.0009 Diseasep.THR99ASNRETINITIS PIGMENTOSA 3



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