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Results for the Protein: NP_009179
404434375

three prime repair exonuclease 1 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  AICARDI-GOUTIERES SYNDROME 1
  AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
  SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
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Default View:

EXOIII - smart00479
TREX1_2 - cd06136
DnaQ_like_exo - cd06125
DEDDh - cd06127


RefSeq Protein: NP_009179
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DnaQ_like_exocd061258.2e-555199
DEDDhcd061271.3e-165199
EXOIIIsmart004793.5e-133207

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM606609.0001 Diseasep.ARG49HISAICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
OMIM606609.0002 Diseasep.ARG99TERAICARDI-GOUTIERES SYNDROME 1
OMIM606609.0006 Diseasep.ASP135ASNAICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
OMIM606609.0004 Diseasep.VAL136ASPAICARDI-GOUTIERES SYNDROME 1



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