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Results for the Protein: Q5SQQ9
74743553

VAX1_HUMAN RecName: Full=Ventral anterior homeobox 1

Known Diseases associated with this Protein:
  MICROPHTHALMIA, SYNDROMIC 11
  MICROPHTHALMIA, SYNDROMIC, 11 (MCOPS11)
2
0
1
0
1
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Default View:

COG5576 - COG5576
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086


Swiss-Prot Protein: Q5SQQ9
Identical to: NP_001106175
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000861.6e-26101159
COG5576COG55761.6e-0546195
Homeoboxpfam000463.3e-30101157
HOXsmart003891.9e-26101156

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067307Diseasep.ARG152SERMicrophthalmia, syndromic, 11 (MCOPS11)
OMIM604294.0001 Diseasep.ARG152SERMICROPHTHALMIA, SYNDROMIC 11



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