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Results for the Protein: Q9Y6B6
14285769

SAR1B_HUMAN RecName: Full=GTP-binding protein SAR1b; AltName: Full=GTP-binding protein B; Short=GTBPB

Known Diseases associated with this Protein:
  CHYLOMICRON RETENTION DISEASE
  CHYLOMICRON RETENTION DISEASE (CMRD)
10
0
5
0
5
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Default View:

SAR - smart00178
ARF - smart00177
Miro - pfam08477


Swiss-Prot Protein: Q9Y6B6
Identical to: NP_001028675, NP_057187
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SARsmart001783.5e-1035197
ARFsmart001771.3e-2012198
Miropfam084773.8e-0527137

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_016807Diseasep.ASP137ASNChylomicron retention disease (CMRD)
Swiss-ProtVAR_059052Diseasep.ASP75GLYChylomicron retention disease (CMRD)
Swiss-ProtVAR_016806Diseasep.GLY37ARGChylomicron retention disease (CMRD)
Swiss-ProtVAR_059051Diseasep.GLY11ASPChylomicron retention disease (CMRD)
Swiss-ProtVAR_016808Diseasep.SER179ARGChylomicron retention disease (CMRD)
OMIM607690.0002 Diseasep.ASP137ASNCHYLOMICRON RETENTION DISEASE
OMIM607690.0007 Diseasep.GLU122TERCHYLOMICRON RETENTION DISEASE
OMIM607690.0001 Diseasep.GLY37ARGCHYLOMICRON RETENTION DISEASE
OMIM607690.0008 Diseasep.GLY185VALCHYLOMICRON RETENTION DISEASE
OMIM607690.0004 Diseasep.SER179ARGCHYLOMICRON RETENTION DISEASE



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