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Results for the Protein: Q15643
292495059

TRIPB_HUMAN RecName: Full=Thyroid receptor-interacting protein 11; Short=TR-interacting protein 11; Short=TRIP-11; AltName: Full=Clonal evolution-related gene on chromosome 14 protein; AltName: Full=Golgi-associated microtubule-binding protein 210; Short=GMAP-210; AltName: Full=Trip230

Known Diseases associated with this Protein:
  ACHONDROGENESIS, TYPE IA
3
15
3
10
5
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Swiss-Prot Protein: Q15643
Identical to: NP_004230
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35007347 Polymorphismp.ARG1576HISN/A
dbSNPrs11851376 Polymorphismp.ARG1752LYSN/A
Swiss-ProtVAR_060345Polymorphismp.ASP1413ALAN/A
dbSNPrs34967261 Polymorphismp.ASP884GLYN/A
Swiss-ProtVAR_055868Polymorphismp.GLU1749ALAN/A
dbSNPrs2273186 Polymorphismp.GLU506ALAN/A
Swiss-ProtVAR_060344Polymorphismp.GLU1107ASPN/A
dbSNPrs80200454 Polymorphismp.GLU1696LYSN/A
dbSNPrs1051340 Polymorphismp.GLY1827SERN/A
dbSNPrs34805848 Polymorphismp.ILE1040VALN/A
dbSNPrs17127898 Polymorphismp.MET39LEUN/A
Swiss-ProtVAR_055866Polymorphismp.MET1503VALN/A
dbSNPrs59635749 Polymorphismp.SER635CYSN/A
Swiss-ProtVAR_054151Polymorphismp.THR1846ILEN/A
dbSNPrs34699762 Polymorphismp.VAL795LEUN/A
OMIM604505.0001 Diseasep.ARG264TERACHONDROGENESIS, TYPE IA
OMIM604505.0004 Diseasep.ASN701SERACHONDROGENESIS, TYPE IA
OMIM604505.0002 Diseasep.TRP1224TERACHONDROGENESIS, TYPE IA



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