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Results for the Protein: P51610
160332311

HCFC1_HUMAN RecName: Full=Host cell factor 1; Short=HCF; Short=HCF-1; AltName: Full=C1 factor; AltName: Full=CFF; AltName: Full=VCAF; AltName: Full=VP16 accessory protein; Contains: RecName: Full=HCF N-terminal chain 1; Contains: RecName: Full=HCF N-terminal chain 2; Contains: RecName: Full=HCF N-terminal chain 3; Contains: RecName: Full=HCF N-terminal chain 4; Contains: RecName: Full=HCF N-terminal chain 5; Contains: RecName: Full=HCF N-terminal chain 6; Contains: RecName: Full=HCF C-terminal chain 1; Contains: RecName: Full=HCF C-terminal chain 2; Contains: RecName: Full=HCF C-terminal chain 3; Contains: RecName: Full=HCF C-terminal chain 4; Contains: RecName: Full=HCF C-terminal chain 5; Contains: RecName: Full=HCF C-terminal chain 6

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED 3
  MENTAL RETARDATION, X-LINKED 3 (MRX3)
  METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE
5
2
4
0
3
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Default View:

Kelch_1 - pfam01344
Kelch_2 - pfam07646


Swiss-Prot Protein: P51610
Identical to: NP_005325
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Kelch_1pfam013440.000463276
Kelch_1pfam013440.00032254313
Kelch_2pfam076460.00013199249

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069098Diseasep.SER225ASNMental retardation, X-linked 3 (MRX3)
Swiss-ProtVAR_050043Polymorphismp.SER2004ILEN/A
Swiss-ProtVAR_019813Polymorphismp.SER1164PRON/A
OMIM300019.0005 Diseasep.ALA73THRMETHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
OMIM300019.0003 Diseasep.ALA115VALMETHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
OMIM300019.0004 Diseasep.ALA73VALMETHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
OMIM300019.0002 Diseasep.SER225ASNMENTAL RETARDATION, X-LINKED 3



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