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Results for the Protein: NP_001243200
372266239

visual system homeobox 1 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
  CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
  KERATOCONUS 1
  KERATOCONUS 1, INCLUDED
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
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Default View:

HOX - smart00389




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 ↕
OMIM605020.0004 Diseasep.ALA1SERCRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
OMIM605020.0001 Diseasep.ARG166TRPKERATOCONUS 1
OMIM605020.0002 Diseasep.GLY160ASPCORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1||KERATOCONUS 1, INCLUDED
OMIM605020.0003 Diseasep.LEU159METRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM605020.0005 Diseasep.LEU17PROKERATOCONUS 1



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