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Results for the Protein: O14497
73920185

ARI1A_HUMAN RecName: Full=AT-rich interactive domain-containing protein 1A; Short=ARID domain-containing protein 1A; AltName: Full=B120; AltName: Full=BRG1-associated factor 250; Short=BAF250; AltName: Full=BRG1-associated factor 250a; Short=BAF250A; AltName: Full=Osa homolog 1; Short=hOSA1; AltName: Full=SWI-like protein; AltName: Full=SWI/SNF complex protein p270; AltName: Full=SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1; AltName: Full=hELD

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
2
6
2
1
5
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Default View:

ARID - pfam01388
BRIGHT - smart00501
DUF3518 - pfam12031


Swiss-Prot Protein: O14497
Identical to: NP_006006
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRIGHTsmart005011.4e-3210181109
DUF3518pfam120311.5e-20919752231

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064695Polymorphismp.ARG1020LYSN/A
Swiss-ProtVAR_068021Polymorphismp.ARG1658TRPN/A
dbSNPrs61756316 Polymorphismp.ASN1705SERN/A
Swiss-ProtVAR_068023Polymorphismp.GLY2087ARGN/A
Swiss-ProtVAR_068022Polymorphismp.ILE1907PHEN/A
Swiss-ProtVAR_064696Polymorphismp.LEU2089PRON/A
OMIM603024.0003 Diseasep.ARG1335TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 14
OMIM603024.0002 Diseasep.GLN920TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 14



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