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Results for the Protein: Q9UMR3
334302934

TBX20_HUMAN RecName: Full=T-box transcription factor TBX20; Short=T-box protein 20

Known Diseases associated with this Protein:
  ATRIAL SEPTAL DEFECT 4
  ATRIAL SEPTAL DEFECT 4 (ASD4)
4
3
3
3
1
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Default View:

TBOX - cd00182
TBOX - smart00425
T-box - pfam00907


Swiss-Prot Protein: Q9UMR3
Identical to: NP_001071121
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TBOXcd001821.3e-14599292
T-boxpfam009071.9e-137101289
TBOXsmart004253.4e-121100293

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs113201899 Polymorphismp.ARG311PRON/A
Swiss-ProtVAR_036995Diseasep.ILE152METAtrial septal defect 4 (ASD4)
dbSNPrs111862418 Polymorphismp.TYR309ASNN/A
dbSNPrs199588209 Polymorphismp.VAL171GLYN/A
OMIM606061.0002 Diseasep.GLN195TERATRIAL SEPTAL DEFECT 4
OMIM606061.0003 Diseasep.ILE121METATRIAL SEPTAL DEFECT 4
OMIM606061.0001 Diseasep.ILE152METATRIAL SEPTAL DEFECT 4



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