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Results for the Protein: NP_742056
26667219

eyes absent homolog 1 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  ANTERIOR SEGMENT ANOMALIES
  ANTERIOR SEGMENT ANOMALIES AND CATARACT
  BRANCHIOOTIC SYNDROME 1
  BRANCHIOOTORENAL SYNDROME 1
  BRANCHIOOTORENAL SYNDROME 1, INCLUDED
  BRANCHIOOTORENAL SYNDROME WITH CATARACT
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2
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Hydrolase - pfam00702


RefSeq Protein: NP_742056
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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 ↕
dbSNPrs1445404 Polymorphismp.PRO20ALAN/A
dbSNPrs77825059 Polymorphismp.PRO256LEUN/A
OMIM601653.0007 Diseasep.ARG372GLNBRANCHIOOTORENAL SYNDROME 1
OMIM601653.0008 Diseasep.ARG479GLYANTERIOR SEGMENT ANOMALIES AND CATARACT
OMIM601653.0001 Diseasep.ARG270TERBRANCHIOOTORENAL SYNDROME 1
OMIM601653.0015 Diseasep.ARG323TERBRANCHIOOTIC SYNDROME 1||BRANCHIOOTORENAL SYNDROME 1, INCLUDED
OMIM601653.0009 Diseasep.GLU325LYSANTERIOR SEGMENT ANOMALIES
OMIM601653.0010 Diseasep.GLY358SERBRANCHIOOTORENAL SYNDROME WITH CATARACT
OMIM601653.0013 Diseasep.LEU437ARGBRANCHIOOTORENAL SYNDROME 1
OMIM601653.0012 Diseasep.SER419PROBRANCHIOOTORENAL SYNDROME 1



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