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Results for the Protein: Q9UBP5
74762767

HEY2_HUMAN RecName: Full=Hairy/enhancer-of-split related with YRPW motif protein 2; AltName: Full=Cardiovascular helix-loop-helix factor 1; Short=hCHF1; AltName: Full=Class B basic helix-loop-helix protein 32; Short=bHLHb32; AltName: Full=HES-related repressor protein 2; AltName: Full=Hairy and enhancer of split-related protein 2; Short=HESR-2; AltName: Full=Hairy-related transcription factor 2; Short=HRT-2; Short=hHRT2; AltName: Full=Protein gridlock homolog
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Default View:

HLH - cd00083
HLH - pfam00010
HLH - smart00353
ORANGE - smart00511
Hairy_orange - pfam07527


Swiss-Prot Protein: Q9UBP5
Identical to: NP_036391
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HLHcd000835.3e-2046108
HLHpfam000102.2e-2051104
HLHsmart003533e-1754109
ORANGEsmart005111.5e-19119166
Hairy_orangepfam075273.4e-16120164

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026975Polymorphismp.ASP98ALAN/A
Swiss-ProtVAR_026976Polymorphismp.LEU100SERN/A
Swiss-ProtVAR_026974Polymorphismp.THR96ALAN/A
Swiss-ProtVAR_026977Polymorphismp.VAL140METN/A



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