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Results for the Protein: Q93074
209572775

MED12_HUMAN RecName: Full=Mediator of RNA polymerase II transcription subunit 12; AltName: Full=Activator-recruited cofactor 240 kDa component; Short=ARC240; AltName: Full=CAG repeat protein 45; AltName: Full=Mediator complex subunit 12; AltName: Full=OPA-containing protein; AltName: Full=Thyroid hormone receptor-associated protein complex 230 kDa component; Short=Trap230; AltName: Full=Trinucleotide repeat-containing gene 11 protein

Known Diseases associated with this Protein:
  LUJAN-FRYNS SYNDROME
  LUJAN-FRYNS SYNDROME (LUJFRYS)
  OHDO SYNDROME, X-LINKED
  OHDO SYNDROME, X-LINKED (OHDOX)
  OPITZ-KAVEGGIA SYNDROME
  OPITZ-KAVEGGIA SYNDROME (OKS)
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Default View:

Med12 - pfam09497
Med12-LCEWAV - pfam12145
Med12-PQL - pfam12144


Swiss-Prot Protein: Q93074
Identical to: NP_005111
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Med12pfam094976.1e-25101161
Med12-LCEWAVpfam12145285757
Med12-PQLpfam121444.9e-13818172020

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069770Diseasep.ARG1148HISOhdo syndrome, X-linked (OHDOX)
Swiss-ProtVAR_033112Diseasep.ARG961TRPOpitz-Kaveggia syndrome (OKS)
Swiss-ProtVAR_037534Diseasep.ASN1007SERLujan-Fryns syndrome (LUJFRYS)
Swiss-ProtVAR_046672Polymorphismp.GLN1392ARGN/A
Swiss-ProtVAR_069772Diseasep.HIS1729ASNOhdo syndrome, X-linked (OHDOX)
Swiss-ProtVAR_069771Diseasep.SER1165PROOhdo syndrome, X-linked (OHDOX)
OMIM300188.0003 Diseasep.ARG1148HISOHDO SYNDROME, X-LINKED
OMIM300188.0001 Diseasep.ARG961TRPOPITZ-KAVEGGIA SYNDROME
OMIM300188.0002 Diseasep.ASN1007SERLUJAN-FRYNS SYNDROME
OMIM300188.0005 Diseasep.HIS1729ASNOHDO SYNDROME, X-LINKED
OMIM300188.0004 Diseasep.SER1165PROOHDO SYNDROME, X-LINKED



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