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Results for the Protein: Q9NUW8
37999797

TYDP1_HUMAN RecName: Full=Tyrosyl-DNA phosphodiesterase 1; Short=Tyr-DNA phosphodiesterase 1

Known Diseases associated with this Protein:
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY (SCAN1)
2
7
1
4
4
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Tyr-DNA_phospho - pfam06087


Swiss-Prot Protein: Q9NUW8
Identical to: NP_060789, NP_001008744
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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 ↕
dbSNPrs28365054 Polymorphismp.ALA134THRN/A
dbSNPrs34452707 Polymorphismp.ARG304GLNN/A
Swiss-ProtVAR_025820Polymorphismp.ASP187GLYN/A
Swiss-ProtVAR_025817Polymorphismp.GLU95ASPN/A
Swiss-ProtVAR_017144Diseasep.HIS493ARGSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy (SCAN1)
dbSNPrs35455108 Polymorphismp.PRO101LEUN/A
Swiss-ProtVAR_017145Polymorphismp.PRO566LEUN/A
dbSNPrs35973343 Polymorphismp.THR569ALAN/A
OMIM607198.0001 Diseasep.HIS493ARGSPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY



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