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Results for the Protein: Q9UMX6
116242507

GUC1B_HUMAN RecName: Full=Guanylyl cyclase-activating protein 2; Short=GCAP 2; AltName: Full=Guanylate cyclase activator 1B

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 48
  RETINITIS PIGMENTOSA 48 (RP48)
2
1
1
0
2
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Default View:

FRQ1 - COG5126
EFh - smart00054
efhand - pfam00036
EFh - cd00051


Swiss-Prot Protein: Q9UMX6
Identical to: NP_002089
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EFhcd000513.2e-1993171
FRQ1COG51261.1e-101176
efhandpfam000366.6e-055785
efhandpfam000361.3e-0593121
efhandpfam000362.7e-05145173
EFhsmart000548.4e-055785
EFhsmart000543.2e-0593121
EFhsmart000543.6e-05145173

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009127Polymorphismp.GLU155ASPN/A
Swiss-ProtVAR_065355Diseasep.GLY157ARGRetinitis pigmentosa 48 (RP48)
OMIM602275.0001 Diseasep.GLY157ARGRETINITIS PIGMENTOSA 48



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