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Results for the Protein: Q9Y2V3
296452886
RAX

RX_HUMAN RecName: Full=Retinal homeobox protein Rx; AltName: Full=Retina and anterior neural fold homeobox protein

Known Diseases associated with this Protein:
  MICROPHTHALMIA, ISOLATED 3
  MICROPHTHALMIA, ISOLATED, 3 (MCOP3)
4
1
3
1
1
Tips:
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Default View:

COG5576 - COG5576
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086
OAR - pfam03826


Swiss-Prot Protein: Q9Y2V3
Identical to: NP_038463
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000861.3e-27137195
COG5576COG55761.6e-1084224
Homeoboxpfam000461.9e-32137193
OARpfam038265.2e-10318338
HOXsmart003891.6e-27137192

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_034905Diseasep.ARG192GLNMicrophthalmia, isolated, 3 (MCOP3)
dbSNPrs2271733 Polymorphismp.ASP44GLUN/A
OMIM601881.0002 Diseasep.ARG192GLUMICROPHTHALMIA, ISOLATED 3
OMIM601881.0001 Diseasep.GLN147TERMICROPHTHALMIA, ISOLATED 3
OMIM601881.0004 Diseasep.TYR303TERMICROPHTHALMIA, ISOLATED 3



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