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Results for the Protein: Q15042
62511099

RB3GP_HUMAN RecName: Full=Rab3 GTPase-activating protein catalytic subunit; AltName: Full=RAB3 GTPase-activating protein 130 kDa subunit; AltName: Full=Rab3-GAP p130; Short=Rab3-GAP

Known Diseases associated with this Protein:
  WARBURG MICRO SYNDROME 1
3
1
3
1
0
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Swiss-Prot Protein: Q15042
Identical to: NP_036365
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs10445686 Polymorphismp.ASN598SERN/A
OMIM602536.0004 Diseasep.ARG671TERWARBURG MICRO SYNDROME 1
OMIM602536.0005 Diseasep.TRP578TERWARBURG MICRO SYNDROME 1
OMIM602536.0006 Diseasep.TYR470TERWARBURG MICRO SYNDROME 1



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