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Results for the Protein: NP_852665
32455250

phosphatidylinositol 3-kinase regulatory subunit alpha isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  SHORT SYNDROME
2
1
2
1
0
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Default View:

SH2 - smart00252
SH2 - cd00173
SH2 - pfam00017


RefSeq Protein: NP_852665
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH2cd001731.2e-30323418
SH2pfam000171.9e-2333108
SH2pfam000173.9e-31324398
SH2smart002521.1e-2831114
SH2smart002522.3e-24322404

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3730089 Polymorphismp.MET26ILEN/A
OMIM171833.0004 Diseasep.ARG349TRPSHORT SYNDROME
OMIM171833.0003 Diseasep.GLU189LYSSHORT SYNDROME



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