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Results for the Protein: NP_001029029
76496499

protein artemis isoform d [Homo sapiens]

Known Diseases associated with this Protein:
  SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE
1
3
1
3
0
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Default View:

DRMBL - pfam07522




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 ↕
dbSNPrs12768894 Polymorphismp.HIS123ARGN/A
dbSNPrs35441642 Polymorphismp.PRO51ARGN/A
dbSNPrs41298896 Polymorphismp.SER200CYSN/A
OMIM605988.0009 Diseasep.TYR72TERSEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE



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