Home News About DMDM Database Statistics Research Publications Contact  

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:



Swiss-Prot Protein: Q8IWS0
Identical to: NP_001015877, NP_115834
   Default View:


Domains found on the Protein

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

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



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258