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JAK2 (p.V617F)

Variant Data

Location

  • HGVS: ENST00000381652:c.1849G>T
  • Reference Version: GRCh37
  • Chromosome: 9
  • Start: 5073770
  • Stop: 5073770
  • Strand: 1
  • Transcript: ENST00000381652 (ensembl - 74_37)
  • Gene: JAK2 ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
acute myeloid leukemia Wang et al., 2010, Blood WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Passamonti et al., 2010, Leukemia WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Jekarl et al., 2010, Korean J Hematol WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Roug et al., 2011, Eur. J. Haematol. WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Yoshiki et al., 2011, Intern. Med. WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Eghtedar et al., 2012, Blood WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Ismael et al., 2012, Br. J. Haematol. WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Malak et al., Blood Cells Mol. Dis. WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Novotny-Diermayr et al., 2012, Blood Cancer J WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Paschka et al., 2013, Blood WashU hematologic malignancy mutation list (View variants) likely pathogenic
acute myeloid leukemia Nagao et al., 2014, PLoS ONE WashU hematologic malignancy mutation list (View variants) likely pathogenic
myelofibrosis Campbell et al., 2006, Blood Literature (View variants) likely pathogenic
myelofibrosis Rumi et al., 2014, Blood Drug Gene Knowledge Database (View variants) likely pathogenic
myelofibrosis MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
bone marrow cancer Baxter et al., Lancet Kin-Driver (View variants) activatinglikely pathogenic
chronic myeloid leukemia Levine et al., 2005, Blood CIViC Knowledgebase (View variants) Civic logo CIViC
bone marrow cancer Kilpivaara et al., 2009, Nat. Genet. CIViC Knowledgebase (View variants) Civic logo CIViC
lymphoid leukemia Levine et al., 2005, Blood CIViC Knowledgebase (View variants) Civic logo CIViC
polycythemia vera Kiladjian et al., 2006, Blood CIViC Knowledgebase (View variants) Civic logo CIViC
polycythemia vera Wernig et al., 2008, Cancer Cell CIViC Knowledgebase (View variants) Civic logo CIViC

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
ruxolitinib activation gain-of-function early trials emerging 22422826
JAK inhibitors (alone or in combination) activation gain-of-function preclinical emerging 22829971
ruxolitinib activation gain-of-function FDA-approved consensus FDA
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