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Results for the Protein: P35241
464541
RDX

RADI_HUMAN RecName: Full=Radixin

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE, 24
  DEAFNESS, AUTOSOMAL RECESSIVE, 24 (DFNB24)
3
2
2
0
3
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Default View:

B41 - smart00295
FERM_N - pfam09379
FERM_C - pfam09380


Swiss-Prot Protein: P35241
Identical to: NP_002897
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
B41smart002951e-762206
FERM_Npfam093791.7e-30986
FERM_Cpfam093801.8e-42210296

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036858Polymorphismp.ASP490ASNN/A
Swiss-ProtVAR_036859Diseasep.ASP578ASNDeafness, autosomal recessive, 24 (DFNB24)
Swiss-ProtVAR_036857Polymorphismp.LYS328GLUN/A
OMIM179410.0001 Diseasep.ASP578ASNDEAFNESS, AUTOSOMAL RECESSIVE, 24
OMIM179410.0003 Diseasep.GLN155TERDEAFNESS, AUTOSOMAL RECESSIVE, 24



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