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Results for the Protein: Q99062
729564

CSF3R_HUMAN RecName: Full=Granulocyte colony-stimulating factor receptor; Short=G-CSF receptor; Short=G-CSF-R; AltName: CD_antigen=CD114; Flags: Precursor

Known Diseases associated with this Protein:
  HEREDITARY NEUTROPHILIA (NEUTROPHILIA)
  NEUTROPHILIA, HEREDITARY
2
9
1
4
6
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Default View:

Lep_receptor_Ig - pfam06328
FN3 - cd00063
FN3 - smart00060
fn3 - pfam00041


Swiss-Prot Protein: Q99062
Identical to: NP_000751
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000630.00012234329
FN3cd000630.00021429525
FN3cd000631e-08527618
fn3pfam000411.2e-06528611
Lep_receptor_Igpfam063289.6e-4422111
FN3smart000600.00045429515
FN3smart000601.4e-07527609

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_014332Polymorphismp.ARG583CYSN/A
Swiss-ProtVAR_014329Polymorphismp.ARG440GLNN/A
Swiss-ProtVAR_014326Polymorphismp.ASP320ASNN/A
dbSNPrs3917991 Polymorphismp.ASP510HISN/A
dbSNPrs3917974 Polymorphismp.GLN346ARGN/A
Swiss-ProtVAR_014328Polymorphismp.GLU405LYSN/A
dbSNPrs3917973 Polymorphismp.MET231THRN/A
Swiss-ProtVAR_062517Polymorphismp.PRO229HISN/A
Swiss-ProtVAR_063065Diseasep.THR640ASNHereditary neutrophilia (NEUTROPHILIA)
dbSNPrs3917996 Polymorphismp.TYR562HISN/A
OMIM138971.0001 Diseasep.THR617ASNNEUTROPHILIA, HEREDITARY



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