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Results for the Protein: Q9NQ40
82654931

S52A3_HUMAN RecName: Full=Solute carrier family 52, riboflavin transporter, member 3; AltName: Full=Riboflavin transporter 2; Short=hRFT2

Known Diseases associated with this Protein:
  BROWN-VIALETTO-VAN LAERE SYNDROME 1
  BROWN-VIALETTO-VAN LAERE SYNDROME 1 (BVVLS1)
  BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD
13
12
8
5
12
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DUF1011 - pfam06237


Swiss-Prot Protein: Q9NQ40
Identical to: NP_212134
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF1011pfam062377.1e-61294395

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6054614 Polymorphismp.ASP174GLYN/A
dbSNPrs35655964 Polymorphismp.ILE74METN/A
dbSNPrs3746802 Polymorphismp.ILE303VALN/A
dbSNPrs3746804 Polymorphismp.PRO267LEUN/A
dbSNPrs3746803 Polymorphismp.THR278METN/A
Swiss-ProtVAR_063695Diseasep.ARG132TRPBrown-Vialetto-Van Laere syndrome 1 (BVVLS1)
Swiss-ProtVAR_053566Polymorphismp.ASP174GLYN/A
Swiss-ProtVAR_063694Diseasep.GLU36LYSBrown-Vialetto-Van Laere syndrome 1 (BVVLS1)
Swiss-ProtVAR_053565Polymorphismp.ILE74METN/A
Swiss-ProtVAR_053569Polymorphismp.ILE303VALN/A
Swiss-ProtVAR_063698Polymorphismp.LEU350METN/A
Swiss-ProtVAR_063696Diseasep.PHE224LEUBrown-Vialetto-Van Laere syndrome 1 (BVVLS1)
Swiss-ProtVAR_063701Diseasep.PHE457LEUBrown-Vialetto-Van Laere syndrome 1 (BVVLS1)
Swiss-ProtVAR_053567Polymorphismp.PRO267LEUN/A
Swiss-ProtVAR_063699Polymorphismp.SER411ARGN/A
Swiss-ProtVAR_053568Polymorphismp.THR278METN/A
Swiss-ProtVAR_063700Diseasep.VAL413ALABrown-Vialetto-Van Laere syndrome 1 (BVVLS1)
OMIM613350.0003 Diseasep.ARG132TRPBROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM613350.0005 Diseasep.GLU36LYSBROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD
OMIM613350.0002 Diseasep.GLU71TERBROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM613350.0004 Diseasep.PHE224LEUBROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM613350.0007 Diseasep.PRO28THRBROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM613350.0009 Diseasep.TRP17ARGBROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM613350.0010 Diseasep.TYR213TERBROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM613350.0006 Diseasep.VAL413ALABROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD



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