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Results for the Protein: NP_624361
21264575

AT-rich interactive domain-containing protein 1A isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
2
1
2
1
0
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Default View:

ARID - pfam01388
BRIGHT - smart00501
DUF3518 - pfam12031


RefSeq Protein: NP_624361
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRIGHTsmart005011.4e-3210181109
DUF3518pfam120311.5e-20917582014

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61756316 Polymorphismp.ASN1488SERN/A
OMIM603024.0003 Diseasep.ARG1335TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 14
OMIM603024.0002 Diseasep.GLN920TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 14



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