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Results for the Protein: P18206
21903479
VCL

VINC_HUMAN RecName: Full=Vinculin; AltName: Full=Metavinculin; Short=MV

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1W (CMD1W)
  CARDIOMYOPATHY, DILATED, 1W
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 15 (CMH15)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
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Swiss-Prot Protein: P18206
Identical to: NP_054706
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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 ↕
Swiss-ProtVAR_035102Polymorphismp.ALA934VALN/A
Swiss-ProtVAR_035105Diseasep.ARG975TRPCardiomyopathy, dilated 1W (CMD1W)
Swiss-ProtVAR_035101Diseasep.LEU277METCardiomyopathy, familial hypertrophic 15 (CMH15)
Swiss-ProtVAR_035103Polymorphismp.PRO943ALAN/A
Swiss-ProtVAR_037667Polymorphismp.VAL234LEUN/A
OMIM193065.0002 Diseasep.ARG975TRPCARDIOMYOPATHY, DILATED, 1W||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
OMIM193065.0003 Diseasep.LEU277METCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15



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