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Results for the Protein: Q9Y6L6
12643959

SO1B1_HUMAN RecName: Full=Solute carrier organic anion transporter family member 1B1; AltName: Full=Liver-specific organic anion transporter 1; Short=LST-1; AltName: Full=OATP-C; AltName: Full=Sodium-independent organic anion-transporting polypeptide 2; Short=OATP-2; AltName: Full=Solute carrier family 21 member 6

Known Diseases associated with this Protein:
  HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
2
20
2
8
12
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Default View:

KAZAL - smart00280
Kazal_2 - pfam07648


Swiss-Prot Protein: Q9Y6L6
Identical to: NP_006437
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
KAZALsmart002800.0009462506
Kazal_2pfam076485.6e-15465506

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015073Polymorphismp.ARG152LYSN/A
dbSNPrs2306283 Polymorphismp.ASN130ASPN/A
Swiss-ProtVAR_015080Polymorphismp.ASN432ASPN/A
Swiss-ProtVAR_057724Polymorphismp.ASN151SERN/A
Swiss-ProtVAR_015078Polymorphismp.ASP241ASNN/A
Swiss-ProtVAR_015081Polymorphismp.ASP462GLYN/A
Swiss-ProtVAR_015083Polymorphismp.ASP655GLYN/A
Swiss-ProtVAR_015075Polymorphismp.GLU156GLYN/A
Swiss-ProtVAR_015084Polymorphismp.GLU667GLYN/A
dbSNPrs59502379 Polymorphismp.GLY488ALAN/A
Swiss-ProtVAR_015079Polymorphismp.ILE353THRN/A
dbSNPrs11045852 Polymorphismp.ILE245VALN/A
dbSNPrs74064213 Polymorphismp.ILE499VALN/A
Swiss-ProtVAR_015077Polymorphismp.LEU193ARGN/A
dbSNPrs34671512 Polymorphismp.LEU643PHEN/A
dbSNPrs59113707 Polymorphismp.PHE400LEUN/A
Swiss-ProtVAR_015070Polymorphismp.PHE73LEUN/A
dbSNPrs11045819 Polymorphismp.PRO155THRN/A
dbSNPrs4149056 Polymorphismp.VAL174ALAN/A
Swiss-ProtVAR_015071Polymorphismp.VAL82ALAN/A
OMIM604843.0003 Diseasep.ARG253TERHYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
OMIM604843.0001 Diseasep.ARG580TERHYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC



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