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Results for the Protein: P78314
3023207

3BP2_HUMAN RecName: Full=SH3 domain-binding protein 2; Short=3BP-2

Known Diseases associated with this Protein:
  CHERUBISM
  CHERUBISM (CRBM)
14
0
7
0
7
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Default View:

PH - smart00233
SH2 - smart00252


Swiss-Prot Protein: P78314
Identical to: NP_001116153, NP_003014
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PHsmart002332.4e-1827130
SH2smart002521.4e-18446544

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013258Diseasep.ARG415GLNCherubism (CRBM)
Swiss-ProtVAR_013257Diseasep.ARG415PROCherubism (CRBM)
Swiss-ProtVAR_013263Diseasep.GLY420ARGCherubism (CRBM)
Swiss-ProtVAR_013262Diseasep.GLY420GLUCherubism (CRBM)
Swiss-ProtVAR_013261Diseasep.PRO418ARGCherubism (CRBM)
Swiss-ProtVAR_013259Diseasep.PRO418HISCherubism (CRBM)
Swiss-ProtVAR_013260Diseasep.PRO418LEUCherubism (CRBM)
OMIM602104.0005 Diseasep.ARG358GLNCHERUBISM
OMIM602104.0004 Diseasep.ARG358PROCHERUBISM
OMIM602104.0006 Diseasep.GLY363ARGCHERUBISM
OMIM602104.0007 Diseasep.GLY363GLUCHERUBISM
OMIM602104.0002 Diseasep.PRO361ARGCHERUBISM
OMIM602104.0003 Diseasep.PRO361HISCHERUBISM
OMIM602104.0001 Diseasep.PRO361LEUCHERUBISM



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