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Results for the Protein: P55316
152031604

FOXG1_HUMAN RecName: Full=Forkhead box protein G1; AltName: Full=Brain factor 1; Short=BF-1; Short=BF1; AltName: Full=Brain factor 2; Short=BF-2; Short=BF2; Short=hBF-2; AltName: Full=Forkhead box protein G1A; AltName: Full=Forkhead box protein G1B; AltName: Full=Forkhead box protein G1C; AltName: Full=Forkhead-related protein FKHL1; Short=HFK1; AltName: Full=Forkhead-related protein FKHL2; Short=HFK2; AltName: Full=Forkhead-related protein FKHL3; Short=HFK3

Known Diseases associated with this Protein:
  RETT SYNDROME CONGENITAL VARIANT (RTTCV)
  RETT SYNDROME, CONGENITAL VARIANT
7
1
5
0
3
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Default View:

FH - smart00339
Fork_head - pfam00250
FH - cd00059


Swiss-Prot Protein: P55316
Identical to: NP_005240
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FHcd000591e-60181258
Fork_headpfam002501.1e-70181276
FHsmart003393.3e-62181269

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064396Diseasep.ARG244CYSRett syndrome congenital variant (RTTCV)
Swiss-ProtVAR_063885Diseasep.PHE215LEURett syndrome congenital variant (RTTCV)
Swiss-ProtVAR_064395Polymorphismp.PRO109LEUN/A
OMIM164874.0004 Diseasep.PHE215LEURETT SYNDROME, CONGENITAL VARIANT
OMIM164874.0001 Diseasep.TRP255TERRETT SYNDROME, CONGENITAL VARIANT
OMIM164874.0005 Diseasep.TRP308TERRETT SYNDROME, CONGENITAL VARIANT
OMIM164874.0006 Diseasep.TRP400TERRETT SYNDROME, CONGENITAL VARIANT
OMIM164874.0003 Diseasep.TYR208TERRETT SYNDROME, CONGENITAL VARIANT



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