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Results for the Protein: Q9H6I2
23822216

SOX17_HUMAN RecName: Full=Transcription factor SOX-17

Known Diseases associated with this Protein:
  VESICOURETERAL REFLUX 3
  VESICOURETERAL REFLUX 3 (VUR3)
4
0
2
0
2
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Default View:

SOX-TCF_HMG-box - cd01388
HMG - smart00398
MATA_HMG-box - cd01389
HMG_box - pfam00505
HMGB-UBF_HMG-box - cd01390
HMG-box - cd00084
Sox_C_TAD - pfam12067


Swiss-Prot Protein: Q9H6I2
Identical to: NP_071899
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MATA_HMG-boxcd013893.8e-2167143
HMG-boxcd000841.3e-2468133
HMGB-UBF_HMG-boxcd013904e-1668133
HMG_boxpfam005056.5e-3368136
HMGsmart003982.5e-2967136
Sox_C_TADpfam120671.9e-50196413

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065169Diseasep.GLY178CYSVesicoureteral reflux 3 (VUR3)
Swiss-ProtVAR_065170Diseasep.TYR259ASNVesicoureteral reflux 3 (VUR3)
OMIM610928.0002 Diseasep.GLY178CYSVESICOURETERAL REFLUX 3
OMIM610928.0001 Diseasep.TYR259ASNVESICOURETERAL REFLUX 3



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