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Results for the Protein: Q9UBR4
12643415

LHX3_HUMAN RecName: Full=LIM/homeobox protein Lhx3; Short=LIM homeobox protein 3

Known Diseases associated with this Protein:
  PITUITARY HORMONE DEFICIENCY, COMBINED, 3
  PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (CPHD3)
7
0
5
0
2
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Default View:

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


Swiss-Prot Protein: Q9UBR4
Identical to: NP_835258
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000861.8e-23158216
LIMpfam004125.3e-213186
LIMpfam004122.3e-2390149
COG5576COG55761.2e-05105270
Homeoboxpfam000461.2e-26158214
LIMsmart001327.8e-143067
LIMsmart001323.9e-1389127
HOXsmart003895.8e-23158213

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063240Diseasep.ALA210VALPituitary hormone deficiency, combined, 3 (CPHD3)
Swiss-ProtVAR_010713Diseasep.TYR111CYSPituitary hormone deficiency, combined, 3 (CPHD3)
OMIM600577.0004 Diseasep.ALA205VALPITUITARY HORMONE DEFICIENCY, COMBINED, 3
OMIM600577.0005 Diseasep.GLU168TERPITUITARY HORMONE DEFICIENCY, COMBINED, 3
OMIM600577.0009 Diseasep.LYS45TERPITUITARY HORMONE DEFICIENCY, COMBINED, 3
OMIM600577.0007 Diseasep.TRP219TERPITUITARY HORMONE DEFICIENCY, COMBINED, 3
OMIM600577.0001 Diseasep.TYR111CYSPITUITARY HORMONE DEFICIENCY, COMBINED, 3



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