Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_338599
18375535

three prime repair exonuclease 1 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  AICARDI-GOUTIERES SYNDROME 1
  AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
  SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
4
0
4
0
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

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


RefSeq Protein: NP_338599
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DnaQ_like_exocd061258.2e-5515209
DEDDhcd061271.3e-1615209
EXOIIIsmart004793.5e-1313217

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM606609.0001 Diseasep.ARG59HISAICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
OMIM606609.0002 Diseasep.ARG109TERAICARDI-GOUTIERES SYNDROME 1
OMIM606609.0006 Diseasep.ASP145ASNAICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
OMIM606609.0004 Diseasep.VAL146ASPAICARDI-GOUTIERES SYNDROME 1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258