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Results for the Protein: P19235
119524

EPOR_HUMAN RecName: Full=Erythropoietin receptor; Short=EPO-R; Flags: Precursor

Known Diseases associated with this Protein:
  ERYTHROCYTOSIS, FAMILIAL, 1
  ERYTHROCYTOSIS, FAMILIAL, 1 (ECYT1)
  ERYTHROLEUKEMIA, INCLUDED
5
1
3
1
2
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Default View:

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


Swiss-Prot Protein: P19235
Identical to: NP_000112
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000635.7e-12145244
fn3pfam000410.00056146228
EpoR_lig-bindpfam090674.1e-5237140
FN3smart000603.5e-09145230

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_027372Diseasep.ASN487SERErythrocytosis, familial, 1 (ECYT1)
dbSNPrs35423344 Polymorphismp.PRO380ALAN/A
Swiss-ProtVAR_027373Diseasep.PRO488SERErythrocytosis, familial, 1 (ECYT1)
OMIM133171.0003 Diseasep.ASN487SERERYTHROCYTOSIS, FAMILIAL, 1||ERYTHROLEUKEMIA, INCLUDED
OMIM133171.0001 Diseasep.TRP439TERERYTHROCYTOSIS, FAMILIAL, 1
OMIM133171.0006 Diseasep.TYR426TERERYTHROCYTOSIS, FAMILIAL, 1



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