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Results for the Protein: Q8WYR1
74716480

PI3R5_HUMAN RecName: Full=Phosphoinositide 3-kinase regulatory subunit 5; Short=PI3-kinase regulatory subunit 5; AltName: Full=PI3-kinase p101 subunit; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit; Short=PtdIns-3-kinase regulatory subunit; AltName: Full=Protein FOAP-2; AltName: Full=PtdIns-3-kinase p101; AltName: Full=p101-PI3K

Known Diseases associated with this Protein:
  ATAXIA-OCULOMOTOR APRAXIA 3 (AOA3)
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1
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2
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PI3K_1B_p101 - pfam10486


Swiss-Prot Protein: Q8WYR1
Identical to: NP_001136105, NP_055123
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PI3K_1B_p101pfam104866880

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036227Polymorphismp.ARG28CYSN/A
Swiss-ProtVAR_067052Diseasep.PRO629SERAtaxia-oculomotor apraxia 3 (AOA3)



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