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Results for the Protein: Q9Y2M0
160410012

FAN1_HUMAN RecName: Full=Fanconi-associated nuclease 1; AltName: Full=FANCD2/FANCI-associated nuclease 1; AltName: Full=Myotubularin-related protein 15

Known Diseases associated with this Protein:
  INTERSTITIAL NEPHRITIS, KARYOMEGALIC
  INTERSTITIAL NEPHRITIS, KARYOMEGALIC (KMIN)
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2
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2
4
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Default View:

ZnF_Rad18 - smart00734
VRR_NUC - pfam08774


Swiss-Prot Protein: Q9Y2M0
Identical to: NP_055782
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_Rad18smart007347.2e-114165
VRR_NUCpfam087741.8e-358931008

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068961Diseasep.ASP960ASNInterstitial nephritis, karyomegalic (KMIN)
Swiss-ProtVAR_068958Diseasep.CYS871ARGInterstitial nephritis, karyomegalic (KMIN)
Swiss-ProtVAR_068959Diseasep.GLN929PROInterstitial nephritis, karyomegalic (KMIN)
dbSNPrs79759675 Polymorphismp.GLU437GLYN/A
Swiss-ProtVAR_068960Diseasep.GLY937ASPInterstitial nephritis, karyomegalic (KMIN)
dbSNPrs4779794 Polymorphismp.GLY233GLUN/A
OMIM613534.0004 Diseasep.ARG749TERINTERSTITIAL NEPHRITIS, KARYOMEGALIC
OMIM613534.0008 Diseasep.GLY937ARGINTERSTITIAL NEPHRITIS, KARYOMEGALIC
OMIM613534.0001 Diseasep.TRP707TERINTERSTITIAL NEPHRITIS, KARYOMEGALIC



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