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Results for the Protein: Q8WUU5
74730762

GATD1_HUMAN RecName: Full=GATA zinc finger domain-containing protein 1; AltName: Full=Ocular development-associated gene protein

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 2B (CMD2B)
  CARDIOMYOPATHY, DILATED, 2B
2
2
1
0
3
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Swiss-Prot Protein: Q8WUU5
Identical to: NP_066990
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068557Polymorphismp.ARG233TRPN/A
Swiss-ProtVAR_032533Polymorphismp.GLY54SERN/A
Swiss-ProtVAR_068556Diseasep.SER102PROCardiomyopathy, dilated 2B (CMD2B)
OMIM614518.0001 Diseasep.SER102PROCARDIOMYOPATHY, DILATED, 2B



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