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Results for the Protein: Q96EV8
38604971

DTBP1_HUMAN RecName: Full=Dysbindin; AltName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 8; Short=BLOC-1 subunit 8; AltName: Full=Dysbindin-1; AltName: Full=Dystrobrevin-binding protein 1; AltName: Full=Hermansky-Pudlak syndrome 7 protein; Short=HPS7 protein

Known Diseases associated with this Protein:
  HERMANSKY-PUDLAK SYNDROME 7
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4
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Dysbindin - pfam04440


Swiss-Prot Protein: Q96EV8
Identical to: NP_115498
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Dysbindinpfam044401e-62171340

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs73369534 Polymorphismp.ARG292GLYN/A
Swiss-ProtVAR_053069Polymorphismp.GLY214ASPN/A
dbSNPrs17470454 Polymorphismp.PRO272SERN/A
dbSNPrs74907982 Polymorphismp.PRO296SERN/A
OMIM607145.0001 Diseasep.GLN103TERHERMANSKY-PUDLAK SYNDROME 7



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