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Results for the Protein: Q969G2
209572644

LHX4_HUMAN RecName: Full=LIM/homeobox protein Lhx4; Short=LIM homeobox protein 4

Known Diseases associated with this Protein:
  PITUITARY HORMONE DEFICIENCY, COMBINED, 4
  PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (CPHD4)
8
1
4
1
4
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Default View:

LIM - smart00132
LIM - pfam00412
COG5576 - COG5576
HOX - smart00389
homeodomain - cd00086
Homeobox - pfam00046


Swiss-Prot Protein: Q969G2
Identical to: NP_203129
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000861.2e-23158216
LIMpfam004123e-203085
LIMpfam004122.8e-2389148
COG5576COG55762.9e-06104258
Homeoboxpfam000461.1e-26158214
LIMsmart001322.6e-132966
LIMsmart001325.9e-1388126
HOXsmart003894.5e-23158213

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058717Diseasep.ALA210PROPituitary hormone deficiency, combined, 4 (CPHD4)
Swiss-ProtVAR_058715Diseasep.ARG84CYSPituitary hormone deficiency, combined, 4 (CPHD4)
dbSNPrs7536561 Polymorphismp.ASN328SERN/A
Swiss-ProtVAR_058716Diseasep.LEU190ARGPituitary hormone deficiency, combined, 4 (CPHD4)
Swiss-ProtVAR_063241Diseasep.PRO389THRPituitary hormone deficiency, combined, 4 (CPHD4)
OMIM602146.0002 Diseasep.ALA210PROPITUITARY HORMONE DEFICIENCY, COMBINED, 4
OMIM602146.0003 Diseasep.ARG84CYSPITUITARY HORMONE DEFICIENCY, COMBINED, 4
OMIM602146.0004 Diseasep.LEU190ARGPITUITARY HORMONE DEFICIENCY, COMBINED, 4
OMIM602146.0005 Diseasep.PRO366THRPITUITARY HORMONE DEFICIENCY, COMBINED, 4



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