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Results for the Protein: Q9H9Q4
74734059

NHEJ1_HUMAN RecName: Full=Non-homologous end-joining factor 1; AltName: Full=Protein cernunnos; AltName: Full=XRCC4-like factor

Known Diseases associated with this Protein:
  AND SENSITIVITY TO IONIZING RADIATION
  SEVERE COMBINED IMMUNODEFICIENCY DUE TO NHEJ1 DEFICIENCY (NHEJ1-SCID)
  SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,
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XLF - pfam09302


Swiss-Prot Protein: Q9H9Q4
Identical to: NP_079058
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
XLFpfam093028.5e-6011172

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34689457 Polymorphismp.ALA14THRN/A
Swiss-ProtVAR_025704Diseasep.ARG57GLYSevere combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)
Swiss-ProtVAR_025705Diseasep.CYS123ARGSevere combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)
dbSNPrs35270667 Polymorphismp.GLN256LEUN/A
Swiss-ProtVAR_038791Polymorphismp.HIS89ARGN/A
OMIM611290.0001 Diseasep.ARG57GLYSEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,||AND SENSITIVITY TO IONIZING RADIATION
OMIM611290.0003 Diseasep.ARG178TERSEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,||AND SENSITIVITY TO IONIZING RADIATION
OMIM611290.0002 Diseasep.CYS123ARGSEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,||AND SENSITIVITY TO IONIZING RADIATION



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