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Results for the Protein: NP_001240744
359465547

solute carrier family 52, riboflavin transporter, member 2 [Homo sapiens]

Known Diseases associated with this Protein:
  BROWN-VIALETTO-VAN LAERE SYNDROME 2
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Default View:

DUF1011 - pfam06237




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF1011pfam062379.6e-57270371

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM607882.0006 Diseasep.ALA284ASPBROWN-VIALETTO-VAN LAERE SYNDROME 2
OMIM607882.0001 Diseasep.GLY306ARGBROWN-VIALETTO-VAN LAERE SYNDROME 2
OMIM607882.0005 Diseasep.GLY419SERBROWN-VIALETTO-VAN LAERE SYNDROME 2
OMIM607882.0002 Diseasep.LEU123PROBROWN-VIALETTO-VAN LAERE SYNDROME 2
OMIM607882.0003 Diseasep.LEU339PROBROWN-VIALETTO-VAN LAERE SYNDROME 2
OMIM607882.0004 Diseasep.SER52PHEBROWN-VIALETTO-VAN LAERE SYNDROME 2
OMIM607882.0007 Diseasep.TYR305CYSBROWN-VIALETTO-VAN LAERE SYNDROME 2



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