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Results for the Protein: Q8IWS0
42559482

PHF6_HUMAN RecName: Full=PHD finger protein 6; AltName: Full=PHD-like zinc finger protein

Known Diseases associated with this Protein:
  BOERJESON-FORSSMAN-LEHMANN SYNDROME (BFLS)
  BORJESON-FORSSMAN-LEHMANN SYNDROME
13
0
8
0
5
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Swiss-Prot Protein: Q8IWS0
Identical to: NP_001015877, NP_115834
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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 ↕
Swiss-ProtVAR_017637Diseasep.ARG257GLYBoerjeson-Forssman-Lehmann syndrome (BFLS)
Swiss-ProtVAR_017634Diseasep.CYS99PHEBoerjeson-Forssman-Lehmann syndrome (BFLS)
Swiss-ProtVAR_017633Diseasep.CYS45TYRBoerjeson-Forssman-Lehmann syndrome (BFLS)
Swiss-ProtVAR_017635Diseasep.HIS229ARGBoerjeson-Forssman-Lehmann syndrome (BFLS)
Swiss-ProtVAR_017636Diseasep.LYS234GLUBoerjeson-Forssman-Lehmann syndrome (BFLS)
OMIM300414.0007 Diseasep.ARG257GLYBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0001 Diseasep.ARG342TERBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0002 Diseasep.CYS99PHEBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0004 Diseasep.CYS45TYRBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0005 Diseasep.HIS229ARGBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0003 Diseasep.LYS234GLUBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0008 Diseasep.LYS8TERBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0006 Diseasep.MET1TYRBORJESON-FORSSMAN-LEHMANN SYNDROME



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