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Results for the Protein: Q8WVJ9
32699724

TWST2_HUMAN RecName: Full=Twist-related protein 2; AltName: Full=Class A basic helix-loop-helix protein 39; Short=bHLHa39; AltName: Full=Dermis-expressed protein 1; Short=Dermo-1

Known Diseases associated with this Protein:
  FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
2
0
2
0
0
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Default View:

HLH - cd00083
HLH - pfam00010
HLH - smart00353


Swiss-Prot Protein: Q8WVJ9
Identical to: NP_476527
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HLHpfam000106e-2067118
HLHsmart003531.5e-1872123

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM607556.0001 Diseasep.GLN119TERFOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
OMIM607556.0002 Diseasep.GLN65TERFOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE



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