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Results for the Protein: Q9NSU2
47606216

TREX1_HUMAN RecName: Full=Three prime repair exonuclease 1; AltName: Full=3'-5' exonuclease TREX1; AltName: Full=DNase III

Known Diseases associated with this Protein:
  AICARDI-GOUTIERES SYNDROME 1
  AICARDI-GOUTIERES SYNDROME 1 (AGS1)
  AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
  AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED
  CHILBLAIN LUPUS
  CHILBLAIN LUPUS 1 (CHBL1)
  SYSTEMIC LUPUS ERYTHEMATOSUS (SLE)
  SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
16
1
5
0
12
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Default View:

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


Swiss-Prot Protein: Q9NSU2
Identical to: NP_057465
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TREX1_2cd061361.1e-8469266
DnaQ_like_exocd061258.2e-5570264
DEDDhcd061271.3e-1670264
EXOIIIsmart004793.5e-1368272

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037952Diseasep.ALA302PROSystemic lupus erythematosus (SLE)
Swiss-ProtVAR_037949Diseasep.ALA213VALSystemic lupus erythematosus (SLE)
Swiss-ProtVAR_028319Diseasep.ARG169HISSystemic lupus erythematosus (SLE)
Swiss-ProtVAR_037951Diseasep.ARG295SERSystemic lupus erythematosus (SLE)
Swiss-ProtVAR_032940Diseasep.ASP255ASNAicardi-Goutieres syndrome 1 (AGS1)
Swiss-ProtVAR_037948Diseasep.ASP73ASNChilblain lupus 1 (CHBL1)
Swiss-ProtVAR_037953Polymorphismp.GLU321GLYN/A
Swiss-ProtVAR_037956Diseasep.GLY361ALASystemic lupus erythematosus (SLE)
Swiss-ProtVAR_037950Diseasep.GLY282SERSystemic lupus erythematosus (SLE)
Swiss-ProtVAR_037954Diseasep.PRO345LEUSystemic lupus erythematosus (SLE)
Swiss-ProtVAR_037955Diseasep.TYR360CYSSystemic lupus erythematosus (SLE)
Swiss-ProtVAR_028321Diseasep.VAL256ASPAicardi-Goutieres syndrome 1 (AGS1)
OMIM606609.0001 Diseasep.ARG114HISAICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
OMIM606609.0002 Diseasep.ARG164TERAICARDI-GOUTIERES SYNDROME 1
OMIM606609.0007 Diseasep.ASP18ASNCHILBLAIN LUPUS||AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED
OMIM606609.0006 Diseasep.ASP200ASNAICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
OMIM606609.0004 Diseasep.VAL201ASPAICARDI-GOUTIERES SYNDROME 1



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