JAK2 c.1850T>A ;(p.V617D)

Variant ID: 9-5073771-T-A

NM_004972.3(JAK2):c.1850T>A;(p.V617D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: JAK2: 1850T>A; Val617Asp
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 6
View BVdb publication page



p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Haematologica
Eder-Azanza, Laura L; Hurtado, Cristina C; Navarro-Herrera, David D; Aranaz, Paula P; Novo, Francisco J FJ; Vizmanos, José L JL
Publication Date: 2017-08

Variant appearance in text: JAK2: V617D
PubMed Link: 28473624
Variant Present in the following documents:
  • Main text
View BVdb publication page