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Results for the Protein: NP_060881
22547207
HR

protein hairless isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  ALOPECIA UNIVERSALIS CONGENITA
  ATRICHIA WITH PAPULAR LESIONS
5
10
5
10
0
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JmjC - smart00558


RefSeq Protein: NP_060881
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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 ↕
dbSNPrs115643651 Polymorphismp.ALA503THRN/A
dbSNPrs73549523 Polymorphismp.CYS397TYRN/A
dbSNPrs74596676 Polymorphismp.GLN528ARGN/A
dbSNPrs75362423 Polymorphismp.GLU636GLYN/A
dbSNPrs12675375 Polymorphismp.GLY337ASPN/A
dbSNPrs56140348 Polymorphismp.LEU526PRON/A
dbSNPrs73549525 Polymorphismp.PRO63ARGN/A
dbSNPrs77758962 Polymorphismp.PRO319LEUN/A
dbSNPrs11990451 Polymorphismp.SER911ARGN/A
dbSNPrs7014851 Polymorphismp.THR1022ALAN/A
OMIM602302.0007 Diseasep.ARG613TERATRICHIA WITH PAPULAR LESIONS
OMIM602302.0012 Diseasep.ASP1012ASNALOPECIA UNIVERSALIS CONGENITA
OMIM602302.0011 Diseasep.GLN1121TERATRICHIA WITH PAPULAR LESIONS
OMIM602302.0001 Diseasep.THR1022ALAALOPECIA UNIVERSALIS CONGENITA
OMIM602302.0002 Diseasep.VAL1081ASPALOPECIA UNIVERSALIS CONGENITA



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