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Results for the Protein: P58012
13626838
668

FOXL2_HUMAN RecName: Full=Forkhead box protein L2

Known Diseases associated with this Protein:
  BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
  BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME (BPES)
  BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
  BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II, I
  PREMATURE OVARIAN FAILURE 3
  PREMATURE OVARIAN FAILURE 3 (POF3)
35
3
9
0
29
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Default View:

FH - smart00339
Fork_head - pfam00250
FH - cd00059


Swiss-Prot Protein: P58012
Identical to: NP_075555
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FHcd000593e-5554131
Fork_headpfam002505.3e-5954149
FHsmart003392.7e-5954142

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021201Polymorphismp.ALA179GLYN/A
Swiss-ProtVAR_021197Diseasep.ALA66VALBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_046497Diseasep.ARG103CYSBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_016886Diseasep.ASN109LYSBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_021200Diseasep.ASN105SERBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_062548Polymorphismp.CYS134TRPN/A
Swiss-ProtVAR_021198Diseasep.GLU69LYSBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_015181Diseasep.GLY187ASPPremature ovarian failure 3 (POF3)
Swiss-ProtVAR_021199Diseasep.HIS104ARGBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_046492Diseasep.ILE84ASNBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_016883Diseasep.ILE84SERBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_046496Diseasep.ILE102THRBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_062545Diseasep.ILE63THRBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_046491Diseasep.ILE80THRBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_016885Diseasep.LEU106PHEBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_046498Diseasep.LEU106PROBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_062547Diseasep.LEU108PROBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_021202Diseasep.LYS193ARGBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_046490Diseasep.MET65VALBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_046493Diseasep.PHE90SERBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_015182Polymorphismp.PRO285SERN/A
Swiss-ProtVAR_046495Diseasep.SER101ARGBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_062549Diseasep.SER217CYSBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_021196Diseasep.SER58LEUBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_016887Diseasep.SER217PHEBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_062546Diseasep.TRP98ARGBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_046494Diseasep.TRP98GLYBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Swiss-ProtVAR_021204Diseasep.TYR258ASNPremature ovarian failure 3 (POF3)
Swiss-ProtVAR_021203Diseasep.TYR215CYSBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
OMIM605597.0013 Diseasep.GLN196TERBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
OMIM605597.0001 Diseasep.GLN219TERBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM605597.0008 Diseasep.GLN53TERBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM605597.0012 Diseasep.GLN99TERBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM605597.0020 Diseasep.GLU69LYSBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM605597.0019 Diseasep.GLY187ASPPREMATURE OVARIAN FAILURE 3
OMIM605597.0011 Diseasep.ILE84SERBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
OMIM605597.0017 Diseasep.TYR258ASNPREMATURE OVARIAN FAILURE 3
OMIM605597.0009 Diseasep.TYR274TERBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I||BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II, I



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