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Results for the Protein: P42702
1170784

LIFR_HUMAN RecName: Full=Leukemia inhibitory factor receptor; Short=LIF receptor; Short=LIF-R; AltName: CD_antigen=CD118; Flags: Precursor

Known Diseases associated with this Protein:
  STUEVE-WIEDEMANN SYNDROME (STWS)
  STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME
2
6
1
3
4
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Default View:

FN3 - smart00060
FN3 - cd00063


Swiss-Prot Protein: P42702
Identical to: NP_001121143, NP_002301
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000634.2e-09433530
FN3cd000631.4e-07724829
FN3smart000605.7e-07433520
FN3smart000601.5e-05724820

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3729740 Polymorphismp.ASP578ASNN/A
dbSNPrs3729734 Polymorphismp.HIS116TYRN/A
Swiss-ProtVAR_021996Polymorphismp.ILE633METN/A
Swiss-ProtVAR_036166Polymorphismp.PHE1068LEUN/A
Swiss-ProtVAR_038626Polymorphismp.SER664LEUN/A
Swiss-ProtVAR_025666Diseasep.SER279PROStueve-Wiedemann syndrome (STWS)
dbSNPrs3110234 Polymorphismp.VAL785ILEN/A
OMIM151443.0002 Diseasep.ARG597TERSTUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME



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