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Results for the Protein: Q9UEF7
77416517
KL

KLOT_HUMAN RecName: Full=Klotho; Contains: RecName: Full=Klotho peptide; Flags: Precursor

Known Diseases associated with this Protein:
  TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC
  TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL (HFTC)
2
6
1
3
4
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Swiss-Prot Protein: Q9UEF7
Identical to: NP_004786
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs9527025 Polymorphismp.CYS370SERN/A
Swiss-ProtVAR_064554Diseasep.HIS193ARGTumoral calcinosis, hyperphosphatemic, familial (HFTC)
dbSNPrs9536314 Polymorphismp.PHE352VALN/A
Swiss-ProtVAR_023583Polymorphismp.PHE45VALN/A
Swiss-ProtVAR_023582Polymorphismp.PRO15GLNN/A
Swiss-ProtVAR_036449Polymorphismp.PRO954LEUN/A
dbSNPrs3752472 Polymorphismp.PRO514SERN/A
OMIM604824.0002 Diseasep.HIS193ARGTUMORAL CALCINOSIS, HYPERPHOSPHATEMIC



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