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Results for the Protein: Q9H221
17432916

ABCG8_HUMAN RecName: Full=ATP-binding cassette sub-family G member 8; AltName: Full=Sterolin-2

Known Diseases associated with this Protein:
  GALLBLADDER DISEASE 4
  SITOSTEROLEMIA
  SITOSTEROLEMIA (STSL)
19
12
9
7
15
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Swiss-Prot Protein: Q9H221
Identical to: NP_071882
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35518570 Polymorphismp.ALA259VALN/A
Swiss-ProtVAR_012256Diseasep.ARG263GLNSitosterolemia (STSL)
Swiss-ProtVAR_012252Diseasep.ARG184HISSitosterolemia (STSL)
Swiss-ProtVAR_012258Diseasep.ARG405HISSitosterolemia (STSL)
Swiss-ProtVAR_012260Diseasep.ARG543SERSitosterolemia (STSL)
dbSNPrs11887534 Polymorphismp.ASP19ASNN/A
Swiss-ProtVAR_012250Polymorphismp.ASP19HISN/A
dbSNPrs80025980 Polymorphismp.CYS80TYRN/A
Swiss-ProtVAR_012254Polymorphismp.GLU238LYSN/A
Swiss-ProtVAR_012264Diseasep.GLY574ARGSitosterolemia (STSL)
Swiss-ProtVAR_012265Polymorphismp.GLY575ARGN/A
Swiss-ProtVAR_012263Diseasep.GLY574GLUSitosterolemia (STSL)
Swiss-ProtVAR_012266Diseasep.LEU596ARGSitosterolemia (STSL)
Swiss-ProtVAR_012259Diseasep.LEU501PROSitosterolemia (STSL)
Swiss-ProtVAR_012262Diseasep.LEU572PROSitosterolemia (STSL)
Swiss-ProtVAR_022075Polymorphismp.MET655VALN/A
Swiss-ProtVAR_012253Diseasep.PRO231THRSitosterolemia (STSL)
dbSNPrs4148217 Polymorphismp.THR400LYSN/A
dbSNPrs4148211 Polymorphismp.TYR54CYSN/A
Swiss-ProtVAR_020785Polymorphismp.TYR641PHEN/A
dbSNPrs6544718 Polymorphismp.VAL632ALAN/A
dbSNPrs9282574 Polymorphismp.VAL210METN/A
OMIM605460.0004 Diseasep.ARG263GLNSITOSTEROLEMIA
OMIM605460.0006 Diseasep.ARG412TERSITOSTEROLEMIA
OMIM605460.0009 Diseasep.ASP19HISGALLBLADDER DISEASE 4
OMIM605460.0002 Diseasep.GLY574ARGSITOSTEROLEMIA
OMIM605460.0007 Diseasep.LEU596ARGSITOSTEROLEMIA
OMIM605460.0008 Diseasep.PRO231THRSITOSTEROLEMIA
OMIM605460.0010 Diseasep.SER107TERSITOSTEROLEMIA
OMIM605460.0001 Diseasep.TRP361TERSITOSTEROLEMIA
OMIM605460.0003 Diseasep.TYR658TERSITOSTEROLEMIA



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