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Results for the Protein: P28347
3041733

TEAD1_HUMAN RecName: Full=Transcriptional enhancer factor TEF-1; AltName: Full=NTEF-1; AltName: Full=Protein GT-IIC; AltName: Full=TEA domain family member 1; Short=TEAD-1; AltName: Full=Transcription factor 13; Short=TCF-13

Known Diseases associated with this Protein:
  SVEINSSON CHOREORETINAL ATROPHY
  SVEINSSON CHORIORETINAL ATROPHY (SCRA)
2
0
1
0
1
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TEA - smart00426


Swiss-Prot Protein: P28347
Identical to: NP_068780
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TEAsmart004261.1e-513097

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_031530Diseasep.TYR421HISSveinsson chorioretinal atrophy (SCRA)
OMIM189967.0001 Diseasep.TYR421HISSVEINSSON CHOREORETINAL ATROPHY



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