JAK2 c.1004G>A ;(p.G335D)

Variant ID: 9-5055736-G-A

NM_004972.3(JAK2):c.1004G>A;(p.G335D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of a JAK2 FERM Domain Variant Associated With Hereditary Thrombocytosis.

Hemasphere
Müller, Jan J; Porret, Naomi Azur NA; Rüfer, Axel A
Publication Date: 2021-08

Variant appearance in text: JAK2: G335D
PubMed Link: 34350386
Variant Present in the following documents:
  • Main text
  • hs9-5-e626.pdf
View BVdb publication page



Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Annals Of Hematology
Stockklausner, Clemens C; Duffert, C M CM; Cario, H H; Knöfler, R R; Streif, W W; Kulozik, A E AE; ,
Publication Date: 2021-07

Variant appearance in text: JAK2: G335D
PubMed Link: 33712866
Variant Present in the following documents:
  • Main text
  • 277_2021_Article_4485.pdf
View BVdb publication page



Germline JAK2 L611S mutation in a child with thrombocytosis.

Haematologica
Aral, Bernard B; Courtois, Martine M; Ragot, Sylviane S; Bourgeois, Valentin V; Bottolier-Lemallaz, Elodie E; Briandet, Claire C; Girodon, François F
Publication Date: 2018-08

Variant appearance in text: JAK2: G335D
PubMed Link: 29567786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.

Blood
Milosevic Feenstra, Jelena D JD; Nivarthi, Harini H; Gisslinger, Heinz H; Leroy, Emilie E; Rumi, Elisa E; Chachoua, Ilyas I; Bagienski, Klaudia K; Kubesova, Blanka B; Pietra, Daniela D; Gisslinger, Bettina B; Milanesi, Chiara C; Jäger, Roland R; Chen, Doris D; Berg, Tiina T; Schalling, Martin M; Schuster, Michael M; Bock, Christoph C; Constantinescu, Stefan N SN; Cazzola, Mario M; Kralovics, Robert R
Publication Date: 2016-01-21

Variant appearance in text: JAK2: G335D
PubMed Link: 26423830
Variant Present in the following documents:
  • Main text
View BVdb publication page