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Results for the Protein: NP_001139328
224994221

SH3 domain-binding protein 2 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  CHERUBISM
7
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7
0
0
Tips:
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Default View:

PH - smart00233
PH - pfam00169
PH_GRP1-like - cd01252
PH_AGAP - cd01250
PH-like - cd00900
PH - cd00821
SH2 - smart00252
SH2 - cd00173
SH2 - pfam00017




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PHcd008211.8e-1886185
PH-likecd009001.1e-0986185
PH_AGAPcd012509.5e-0586185
SH2cd001731.4e-14513612
PHpfam001697.1e-2384187
SH2pfam000170.00022523595
PHsmart002332.4e-1884187
SH2smart002521.4e-18503601

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM602104.0005 Diseasep.ARG415GLNCHERUBISM
OMIM602104.0004 Diseasep.ARG415PROCHERUBISM
OMIM602104.0006 Diseasep.GLY420ARGCHERUBISM
OMIM602104.0007 Diseasep.GLY420GLUCHERUBISM
OMIM602104.0002 Diseasep.PRO418ARGCHERUBISM
OMIM602104.0003 Diseasep.PRO418HISCHERUBISM
OMIM602104.0001 Diseasep.PRO418LEUCHERUBISM



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