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Results for the Protein: NP_005351
5453736
MAF

transcription factor Maf isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  CATARACT 21, CERULEAN, WITH OR WITHOUT MICROCORNEA
  CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
2
0
2
0
0
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Default View:

Maf_N - pfam08383
BRLZ - smart00338


RefSeq Protein: NP_005351
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRLZsmart003381.1e-11284350

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM177075.0001 Diseasep.ARG288PROCATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
OMIM177075.0002 Diseasep.LYS297ARGCATARACT 21, CERULEAN, WITH OR WITHOUT MICROCORNEA



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