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Results for the Protein: NP_690054
23110970

Hermansky-Pudlak syndrome 4 protein isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  HERMANSKY-PUDLAK SYNDROME 4
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6
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RefSeq Protein: NP_690054
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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 ↕
dbSNPrs77597168 Polymorphismp.ALA232VALN/A
dbSNPrs1894704 Polymorphismp.GLN620HISN/A
dbSNPrs713998 Polymorphismp.GLU224GLYN/A
dbSNPrs1894706 Polymorphismp.HIS601TYRN/A
dbSNPrs2014410 Polymorphismp.LEU438VALN/A
dbSNPrs5752330 Polymorphismp.VAL547METN/A
OMIM606682.0006 Diseasep.ARG212TERHERMANSKY-PUDLAK SYNDROME 4
OMIM606682.0004 Diseasep.GLN176TERHERMANSKY-PUDLAK SYNDROME 4
OMIM606682.0001 Diseasep.GLN626TERHERMANSKY-PUDLAK SYNDROME 4
OMIM606682.0007 Diseasep.GLU133TERHERMANSKY-PUDLAK SYNDROME 4
OMIM606682.0008 Diseasep.GLU217TERHERMANSKY-PUDLAK SYNDROME 4



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