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Results for the Protein: P31271
116242513

HXA13_HUMAN RecName: Full=Homeobox protein Hox-A13; AltName: Full=Homeobox protein Hox-1J

Known Diseases associated with this Protein:
  GUTTMACHER SYNDROME (GUTTS)
  HAND-FOOT-GENITAL SYNDROME
  HAND-FOOT-GENITAL SYNDROME (HFG)
4
0
2
0
2
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Default View:

HoxA13_N - pfam12284
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086


Swiss-Prot Protein: P31271
Identical to: NP_000513
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000863.4e-22323381
Homeoboxpfam000462.1e-23323379
HoxA13_Npfam122841.6e-3363224
HOXsmart003892.1e-22323378

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017776Diseasep.ASN372HISHand-foot-genital syndrome (HFG)
Swiss-ProtVAR_017775Diseasep.GLN371LEUGuttmacher syndrome (GUTTS)
OMIM142959.0004 Diseasep.ASN51HISHAND-FOOT-GENITAL SYNDROME
OMIM142959.0001 Diseasep.TRP369TERHAND-FOOT-GENITAL SYNDROME



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