JAK2 c.1814C>A ;(p.S605Y)

Variant ID: 9-5073735-C-A

NM_004972.3(JAK2):c.1814C>A;(p.S605Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers
González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC
Publication Date: 2022-05-18

Variant appearance in text: JAK2: S605Y
PubMed Link: 35626091
Variant Present in the following documents:
  • cancers-14-02487.pdf
View BVdb publication page



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: 1814C>A; Ser605Tyr
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 9
  • bty518_supplementary_data_s6.xlsx, sheet 9
View BVdb publication page