Results for the protein: Q9Y6L6

Results for the Protein: Q9Y6L6

12643959

10599

SLCO1B1

NCBI, UniProt

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 ↕
Kazal_2	pfam07648	5.6e-15	465	506

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015073	Polymorphism	p.ARG152LYS	N/A
dbSNP	rs2306283	Polymorphism	p.ASN130ASP	N/A
Swiss-Prot	VAR_015080	Polymorphism	p.ASN432ASP	N/A
Swiss-Prot	VAR_057724	Polymorphism	p.ASN151SER	N/A
Swiss-Prot	VAR_015078	Polymorphism	p.ASP241ASN	N/A
Swiss-Prot	VAR_015081	Polymorphism	p.ASP462GLY	N/A
Swiss-Prot	VAR_015083	Polymorphism	p.ASP655GLY	N/A
Swiss-Prot	VAR_015075	Polymorphism	p.GLU156GLY	N/A
Swiss-Prot	VAR_015084	Polymorphism	p.GLU667GLY	N/A
dbSNP	rs59502379	Polymorphism	p.GLY488ALA	N/A
Swiss-Prot	VAR_015079	Polymorphism	p.ILE353THR	N/A
dbSNP	rs11045852	Polymorphism	p.ILE245VAL	N/A
dbSNP	rs74064213	Polymorphism	p.ILE499VAL	N/A
Swiss-Prot	VAR_015077	Polymorphism	p.LEU193ARG	N/A
dbSNP	rs34671512	Polymorphism	p.LEU643PHE	N/A
dbSNP	rs59113707	Polymorphism	p.PHE400LEU	N/A
Swiss-Prot	VAR_015070	Polymorphism	p.PHE73LEU	N/A
dbSNP	rs11045819	Polymorphism	p.PRO155THR	N/A
dbSNP	rs4149056	Polymorphism	p.VAL174ALA	N/A
Swiss-Prot	VAR_015071	Polymorphism	p.VAL82ALA	N/A
OMIM	604843.0003	Disease	p.ARG253TER	HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
OMIM	604843.0001	Disease	p.ARG580TER	HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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