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Results for the Protein: O60674
12643404

JAK2_HUMAN RecName: Full=Tyrosine-protein kinase JAK2; AltName: Full=Janus kinase 2; Short=JAK-2

Known Diseases associated with this Protein:
  ERYTHROCYTOSIS,
  ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
  LEUKEMIA, ACUTE MYELOGENOUS (AML)
  LEUKEMIA, ACUTE MYELOGENOUS, SOMATIC
  MYELOFIBROSIS, SOMATIC, INCLUDED;;
  POLYCYTHEMIA VERA, SOMATIC
  THROMBOCYTHEMIA 3
  THROMBOCYTHEMIA 3 (THCYT3)
  THROMBOCYTHEMIA 3, SOMATIC, INCLUDED;;
7
8
4
0
11
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Default View:

B41 - smart00295
SH2 - smart00252
TyrKc - smart00219
STYKc - smart00221
Pkinase_Tyr - pfam07714
S_TKc - smart00220


Swiss-Prot Protein: O60674
Identical to: NP_004963
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
B41smart002951.2e-5634270
SH2smart002526e-18397487
Pkinase_Tyrpfam077143.6e-84545805
TyrKcsmart002199.4e-25545805
STYKcsmart002214e-14545811
S_TKcsmart002201.5e-11555809
Pkinase_Tyrpfam077142.4e-1398491123
TyrKcsmart002198e-1388491123
STYKcsmart002212.3e-548491096
S_TKcsmart002201.5e-488591127

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_041719Polymorphismp.ALA377GLUN/A
Swiss-ProtVAR_041721Polymorphismp.ARG1063HISN/A
Swiss-ProtVAR_043129Polymorphismp.ASP584GLUN/A
Swiss-ProtVAR_041716Polymorphismp.GLY127ASPN/A
Swiss-ProtVAR_041720Polymorphismp.LEU393VALN/A
Swiss-ProtVAR_041718Polymorphismp.LYS346ARGN/A
Swiss-ProtVAR_032696Diseasep.LYS607ASNLeukemia, acute myelogenous (AML)
Swiss-ProtVAR_041717Polymorphismp.LYS191GLNN/A
Swiss-ProtVAR_032695Polymorphismp.LYS539LEUN/A
Swiss-ProtVAR_067534Diseasep.VAL617ILEThrombocythemia 3 (THCYT3)
Swiss-ProtVAR_032697Diseasep.VAL617PHEThrombocythemia 3 (THCYT3)
OMIM147796.0002 Diseasep.LYS607ASNLEUKEMIA, ACUTE MYELOGENOUS, SOMATIC
OMIM147796.0003 Diseasep.LYS539LEUERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
OMIM147796.0004 Diseasep.VAL617ILETHROMBOCYTHEMIA 3
OMIM147796.0001 Diseasep.VAL617PHEPOLYCYTHEMIA VERA, SOMATIC||THROMBOCYTHEMIA 3, SOMATIC, INCLUDED;;||MYELOFIBROSIS, SOMATIC, INCLUDED;;||ERYTHROCYTOSIS,



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