JAK2 c.1616_1618del ;(p.K539del)

Variant ID: 9-5070025-CAAA-C

NM_004972.3(JAK2):c.1616_1618del;(p.K539del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic Background of Polycythemia Vera.

Genes
Regimbeau, Mathilde M; Mary, Romain R; Hermetet, François F; Girodon, François F
Publication Date: 2022-04-02

Variant appearance in text: JAK2: K539del
PubMed Link: 35456443
Variant Present in the following documents:
  • Main text
  • genes-13-00637.pdf
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Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Clinical Case Reports
Geay, Antoine A; Aral, Bernard B; Bourgeois, Valentin V; Martin, Pauline P; Airaud, Fabrice F; Garrec, Céline C; Bézieau, Stéphane S; Gardie, Betty B; Girodon, François F
Publication Date: 2020-05

Variant appearance in text: JAK2: K539del
PubMed Link: 32477518
Variant Present in the following documents:
  • Main text
  • CCR3-8-790.pdf
View BVdb publication page



Perspectives for the use of structural information and chemical genetics to develop inhibitors of Janus kinases.

Journal Of Cellular And Molecular Medicine
Haan, Claude C; Behrmann, Iris I; Haan, Serge S
Publication Date: 2010-03

Variant appearance in text: JAK2: K539del
PubMed Link: 20132407
Variant Present in the following documents:
  • Main text
  • jcmm0014-0504.pdf
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Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

Haematologica
Schnittger, Susanne S; Bacher, Ulrike U; Haferlach, Claudia C; Geer, Thomas T; Müller, Peter P; Mittermüller, Johann J; Petrides, Petro P; Schlag, Rudolf R; Sandner, Reiner R; Selbach, Johannes J; Slawik, Hans Rainer HR; Tessen, Hans Werner HW; Wehmeyer, Jürgen J; Kern, Wolfgang W; Haferlach, Torsten T
Publication Date: 2009-03

Variant appearance in text: JAK2: K539del
PubMed Link: 19252176
Variant Present in the following documents:
  • Main text
View BVdb publication page