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Results for the Protein: Q8TAA9
38258809

VANG1_HUMAN RecName: Full=Vang-like protein 1; AltName: Full=Loop-tail protein 2 homolog; Short=LPP2; AltName: Full=Strabismus 2; AltName: Full=Van Gogh-like protein 1

Known Diseases associated with this Protein:
  CAUDAL REGRESSION SYNDROME
  NEURAL TUBE DEFECTS
  NEURAL TUBE DEFECTS (NTD)
  SACRAL DEFECT WITH ANTERIOR MENINGOCELE (SDAM)
6
12
3
1
14
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Strabismus - pfam06638


Swiss-Prot Protein: Q8TAA9
Identical to: NP_620409, NP_001165883
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Strabismuspfam0663823524

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062329Polymorphismp.ALA404SERN/A
dbSNPrs4839469 Polymorphismp.ALA116THRN/A
Swiss-ProtVAR_062324Polymorphismp.ARG175GLNN/A
Swiss-ProtVAR_062325Polymorphismp.ARG181GLNN/A
Swiss-ProtVAR_035210Diseasep.ARG274GLNNeural tube defects (NTD)
Swiss-ProtVAR_062330Polymorphismp.ASP468GLUN/A
Swiss-ProtVAR_035435Polymorphismp.GLU347ALAN/A
Swiss-ProtVAR_062321Polymorphismp.GLU25LYSN/A
Swiss-ProtVAR_062326Polymorphismp.LEU202PHEN/A
Swiss-ProtVAR_035211Diseasep.MET328THRNeural tube defects (NTD)
Swiss-ProtVAR_062323Polymorphismp.PHE153SERN/A
Swiss-ProtVAR_062322Polymorphismp.SER83LEUN/A
Swiss-ProtVAR_062327Polymorphismp.THR251METN/A
Swiss-ProtVAR_062328Polymorphismp.TYR290HISN/A
Swiss-ProtVAR_035209Diseasep.VAL239ILESacral defect with anterior meningocele (SDAM)
OMIM610132.0002 Diseasep.ARG274GLNNEURAL TUBE DEFECTS
OMIM610132.0003 Diseasep.MET328THRNEURAL TUBE DEFECTS
OMIM610132.0001 Diseasep.VAL239ILECAUDAL REGRESSION SYNDROME



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