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Results for the Protein: P31150
1707886

GDIA_HUMAN RecName: Full=Rab GDP dissociation inhibitor alpha; Short=Rab GDI alpha; AltName: Full=Guanosine diphosphate dissociation inhibitor 1; Short=GDI-1; AltName: Full=Oligophrenin-2; AltName: Full=Protein XAP-4

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED 41
  MENTAL RETARDATION, X-LINKED 41 (MRX41)
5
0
3
0
2
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Default View:

GDI - pfam00996
MRS6 - COG5044


Swiss-Prot Protein: P31150
Identical to: NP_001484
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GDIpfam009961438

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008131Diseasep.ARG423PROMental retardation, X-linked 41 (MRX41)
Swiss-ProtVAR_008130Diseasep.LEU92PROMental retardation, X-linked 41 (MRX41)
OMIM300104.0003 Diseasep.ARG423PROMENTAL RETARDATION, X-LINKED 41
OMIM300104.0002 Diseasep.ARG70TERMENTAL RETARDATION, X-LINKED 41
OMIM300104.0001 Diseasep.LEU92PROMENTAL RETARDATION, X-LINKED 41



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