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Results for the Protein: O75462
44887813

CRLF1_HUMAN RecName: Full=Cytokine receptor-like factor 1; AltName: Full=Cytokine-like factor 1; Short=CLF-1; AltName: Full=ZcytoR5; Flags: Precursor

Known Diseases associated with this Protein:
  COLD-INDUCED SWEATING SYNDROME 1
  COLD-INDUCED SWEATING SYNDROME 1 (CISS1)
8
1
5
0
4
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Default View:

EpoR_lig-bind - pfam09067
FN3 - cd00063
FN3 - smart00060
fn3 - pfam00041


Swiss-Prot Protein: O75462
Identical to: NP_004741
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
fn3pfam000415.4e-07236321
EpoR_lig-bindpfam090675.4e-11128228
FN3smart000601.1e-10235322

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017865Diseasep.ARG81HISCold-induced sweating syndrome 1 (CISS1)
Swiss-ProtVAR_028355Polymorphismp.ARG176LYSN/A
Swiss-ProtVAR_017866Diseasep.LEU374ARGCold-induced sweating syndrome 1 (CISS1)
Swiss-ProtVAR_033113Diseasep.TRP76GLYCold-induced sweating syndrome 1 (CISS1)
OMIM604237.0002 Diseasep.ARG81HISCOLD-INDUCED SWEATING SYNDROME 1
OMIM604237.0009 Diseasep.ARG277TERCOLD-INDUCED SWEATING SYNDROME 1
OMIM604237.0002 Diseasep.LEU374ARGCOLD-INDUCED SWEATING SYNDROME 1
OMIM604237.0007 Diseasep.LYS368TERCOLD-INDUCED SWEATING SYNDROME 1
OMIM604237.0004 Diseasep.TRP76GLYCOLD-INDUCED SWEATING SYNDROME 1



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